Ausgabe 1/2021
Inhalt (521 Artikel)
Unusual sites of bone involvement in Langerhans cell histiocytosis: a systematic review of the literature
Nahid Reisi, Pouran Raeissi, Touraj Harati Khalilabad, Alireza Moafi
Patient’s thoughts and expectations about centres of expertise for PKU
A. M. J. van Wegberg, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. van Vliet, F. J. van Spronsen
Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy
Eve Fouarge, Arnaud Monseur, Bruno Boulanger, Mélanie Annoussamy, Andreea M. Seferian, Silvana De Lucia, Charlotte Lilien, Leen Thielemans, Khazal Paradis, Belinda S. Cowling, Chris Freitag, Bradley P. Carlin, Laurent Servais, Teresa Gidaro, Elena Gargaun, Virginie Chê, Ulrike Schara, Andrea Gangfuß, Adele D’Amico, James J. Dowling, Basil T. Darras, Aurore Daron, Arturo Hernandez, Capucine de Lattre, Jean-Michel Arnal, Michèle Mayer, Jean-Marie Cuisset, Carole Vuillerot, Stéphanie Fontaine, Rémi Bellance, Valérie Biancalana, Ana Buj-Bello, Jean-Yves Hogrel, Hal Landy, Kimberly Amburgey, Barbara Andres, Enrico Bertini, Ruxandra Cardas, Séverine Denis, Dominique Duchêne, Virginie Latournerie, Nacera Reguiba, Etsuko Tsuchiya, Carina Wallgren-Pettersson
RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer
Berta Luzón-Toro, Leticia Villalba-Benito, Raquel María Fernández, Ana Torroglosa, Guillermo Antiñolo, Salud Borrego
Acute encephalopathy in children with tuberous sclerosis complex
Shingo Numoto, Hirokazu Kurahashi, Atsushi Sato, Masaya Kubota, Takashi Shiihara, Tohru Okanishi, Ryuta Tanaka, Ichiro Kuki, Tetsuhiro Fukuyama, Mitsuru Kashiwagi, Mitsuru Ikeno, Kazuo Kubota, Manami Akasaka, Masakazu Mimaki, Akihisa Okumura
Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
Farah Qaiser, Yue Yin, Carolyn B. Mervis, Colleen A. Morris, Bonita P. Klein-Tasman, Elaine Tam, Lucy R. Osborne, Ryan K. C. Yuen
Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study
Mei Yao, Ying Ma, Ruiying Qian, Yu Xia, Changzheng Yuan, Guannan Bai, Shanshan Mao
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
Atul Mehta, Uma Ramaswami, Joseph Muenzer, Roberto Giugliani, Kurt Ullrich, Tanya Collin-Histed, Zoya Panahloo, Hartmann Wellhoefer, Joel Frader
Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines
Alex King, Humphrey Hanley, Mark Popenhagen, Florencia Perez, Kerry Thompson, Diana Purvis, Nora Garcia, Ida Steinlein, Mia Werkentoft, Matthew Lightfoot, Michelle Lahat, Kalsoom Begum, Julio Tanabe
Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)
Lucas Mix, Olivia Schreiber-Katz, Claudia D. Wurster, Zeljko Uzelac, Sophia Platen, Christina Gipperich, Gresa Ranxha, Gary Wieselmann, Alma Osmanovic, Albert C. Ludolph, Susanne Petri, Dorothée Lulé
Bone fragility in patients affected by congenital diseases non skeletal in origin
L. Masi, S. Ferrari, M. K. Javaid, S. Papapoulos, D. D. Pierroz, M. L. Brandi
Predictors of mortality in patients with hereditary hemorrhagic telangiectasia
K. P. Thompson, J. Nelson, H. Kim, L. Pawlikowska, D. A. Marchuk, M. T. Lawton, Marie E. Faughnan, Murali Chakinala, Marianne S. Clancy, Marie E. Faughnan, James R. Gossage, Katharine Henderson, Vivek Iyer, Raj S. Kasthuri, Helen Kim, Timo Krings, Michael T. Lawton, Doris Lin, Hans-Jurgen Mager, Douglas A. Marchuk, Justin P. McWilliams, Jamie McDonald, Ludmila Pawlikowska, Jeffrey Pollak, Felix Ratjen, Karen Swanson, Karel terBrugge, Dilini Vethanayagam, Andrew J. White, Pearce Wilcox
Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy
Camille S. Corre, Natalie Grant, Reza Sadjadi, Douglas Hayden, Catherine Becker, Pablo Gomery, Florian S. Eichler
Oral disorders in Children with Prader–Willi syndrome: a case control study
Sonal Lavakumar Budihal, Aya Mohammad Ahmad, Adama Sani Usman, Anusha Sreejith, Jayadevan Sreedharan
Quality of life in Italian patients with Multiple endocrine neoplasia type 1 (MEN 1): results of an extensive survey
Francesca Giusti, Federica Cioppi, Caterina Fossi, Francesca Marini, Laura Masi, Francesco Tonelli, Maria Luisa Brandi
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska
Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)
Stéphane Vignes, Juliette Albuisson, Laurence Champion, Joël Constans, Valérie Tauveron, Julie Malloizel, Isabelle Quéré, Laura Simon, Maria Arrault, Patrick Trévidic, Philippe Azria, Annabel Maruani
Fingolimod in children with Rett syndrome: the FINGORETT study
Yvonne Naegelin, Jens Kuhle, Sabine Schädelin, Alexandre N. Datta, Stefano Magon, Michael Amann, Christian Barro, Gian Paolo Ramelli, Kate Heesom, Yves-Alain Barde, Peter Weber, Ludwig Kappos
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up
Rodrigo Tzovenos Starosta, Suzanne Boyer, Shawn Tahata, Kimiyo Raymond, Hee Eun Lee, Lynne A. Wolfe, Christina Lam, Andrew C. Edmondson, Ida Vanessa Doederlein Schwartz, Eva Morava
Chest MRI to diagnose early diaphragmatic weakness in Pompe disease
Laurike Harlaar, Pierluigi Ciet, Gijs van Tulder, Alice Pittaro, Harmke A. van Kooten, Nadine A. M. E. van der Beek, Esther Brusse, Piotr A. Wielopolski, Marleen de Bruijne, Ans T. van der Ploeg, Harm A. W. M. Tiddens, Pieter A. van Doorn
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han
Psychological processes in the experience of hereditary angioedema in adult patients: an observational study
Livia Savarese, Maria Bova, Assunta Maiello, Angelica Petraroli, Ilaria Mormile, Mauro Cancian, Riccardo Senter, Andrea Zanichelli, Giuseppe Spadaro, Maria Francesca Freda
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici
The patient journey toward a diagnosis of hereditary transthyretin (ATTRv) amyloidosis
Montserrat Vera-Llonch, Sheila R. Reddy, Eunice Chang, Marian H. Tarbox, Michael Pollock
Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research
Kylie Tingley, Doug Coyle, Ian D. Graham, Pranesh Chakraborty, Kumanan Wilson, Beth K. Potter
Correlation of retinal and choroidal microvascular impairment in systemic sclerosis
Felix Rommel, David Prangel, Michelle Prasuhn, Salvatore Grisanti, Mahdy Ranjbar
Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders
Thomas Zöggeler, Katharina Stock, Monika Jörg-Streller, Johannes Spenger, Vassiliki Konstantopoulou, Miriam Hufgard-Leitner, Sabine Scholl-Bürgi, Daniela Karall
Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)
Maxim Avanesov, Lennart Well, Azien Laqmani, Thorsten Derlin, Vincent M. Riccardi, Gerhard Adam, Victor-Felix Mautner, Johannes Salamon
Neuroendocrine liver metastasis from the small intestine: Is surgery beneficial for survival?
Andreas Selberherr, Simon Freermann, Oskar Koperek, Martin B. Niederle, Philipp Riss, Christian Scheuba, Bruno Niederle
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
Ravi Savarirayan, David E. Tunkel, Laura M. Sterni, Michael B. Bober, Tae-Joon Cho, Michael J. Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E. Kamps, William G. Mackenzie, Cathleen Raggio, Samantha A. Spencer, Viviana Bompadre, Klane K. White
Exome sequencing in paediatric patients with movement disorders
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Real-world evidence on Kovaltry (81-8973) in children with moderate or severe hemophilia A in Europe: a nested cohort analysis
Jamie O’Hara, Ceri Hirst, Jose Francisco Cabre Marquez, Tom Burke
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review
Zahraa Chayed, Lone Krøldrup Kristensen, Lilian Bomme Ousager, Karina Rønlund, Anette Bygum
The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study
Nicholas M. Burgess, Wendy Kelso, Charles B. Malpas, Toby Winton-Brown, Timothy Fazio, Julie Panetta, Gerard De Jong, Joanna Neath, Sonny Atherton, Dennis Velakoulis, Mark Walterfang
Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment
Alisha Monnette, Er Chen, Dongzhe Hong, Alessandra Bazzano, Stacy Dixon, W. David Arnold, Lizheng Shi
Pancreatic involvement in patients with inborn errors of metabolism
Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy, Sook-Za Kim
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England
Maureen Cleary, James Davison, Rachel Gould, Tarekegn Geberhiwot, Derralynn Hughes, Jean Mercer, Alexandra Morrison, Elaine Murphy, Saikat Santra, James Jarrett, Swati Mukherjee, Karolina M. Stepien
Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways
Ayelet Vardi, Amir Pri-Or, Noa Wigoda, Yulia Grishchuk, Anthony H. Futerman
Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia
Penelope J. Ireland, Ravi Savarirayan, Tash Pocovi, Tracy Tate, Marie Coussens, Louise Tofts, Craig Munns, Verity Pacey
What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
Jeanette Erdmann
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht, Thomas Eggermann
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino
Supportive care needs of patients with rare chronic diseases: multi-method, cross-sectional study
Miram K. Depping, Natalie Uhlenbusch, Yskert von Kodolitsch, Hans F. E. Klose, Victor-Felix Mautner, Bernd Löwe
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family
Noémi Széll, Tamás Fehér, Zoltán Maróti, Tibor Kalmár, Dóra Latinovics, István Nagy, Zsuzsanna Z. Orosz, Márta Janáky, Andrea Facskó, Zoltán Sohajda
The congenital sternoclavicular sinus: a single-institution retrospective study of 88 patients
Gang Yang, Taozhen He
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments
Tamara Dangouloff, Camille Botty, Charlotte Beaudart, Laurent Servais, Mickaël Hiligsmann
Clinicopathological features of fibrosarcomatous dermatofibrosarcoma protuberans and the construction of a back-propagation neural network recognition model
Yanan Li, Jiaqi Liang, Xuewen Xu, Xian Jiang, Chuan Wang, Siyuan Chen, Bo Xiang, Yi Ji
[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis
I. Gallais Sérézal, S. Ferkal, L. Lerman, S. Mulé, B. Funalot, P. Wolkenstein
Clinical analysis of chronic active EBV infection with coronary artery dilatation and a matched case–control study
Ang Wei, Honghao Ma, Liping Zhang, Zhigang Li, Yitong Guan, Qing Zhang, Dong Wang, Hongyun Lian, Rui Zhang, Tianyou Wang
New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa
Jalal Gharesouran, Hassan Hosseinzadeh, Soudeh Ghafouri-Fard, Yalda Jabbari Moghadam, Javad Ahmadian Heris, Amir Hossein Jafari-Rouhi, Mohammad Taheri, Maryam Rezazadeh
Release of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using a dermal regeneration template glove: the Foggia experience
Fedele Lembo, Domenico Parisi, Liberato Roberto Cecchino, Francesco Ciancio, Alessandro Innocenti, Aurelio Portincasa
The relationship between quality of life and coping strategies of children with EB and their parents
Petra J. Mauritz, Marieke Bolling, José C. Duipmans, Mariët Hagedoorn
Suppressed prefrontal cortex oscillations associate with clinical pain in fibrodysplasia ossificans progressiva
Ke Peng, Keerthana Deepti Karunakaran, Robert Labadie, Miranda Veliu, Chandler Cheung, Arielle Lee, Paul B. Yu, Jaymin Upadhyay
Using pre-existing social networks to determine the burden of disease and real-life needs in rare diseases: the example of Thygeson's superficial punctate keratitis
Rana Saad, Sami Saad, Oscar Haigh, Domitille Molinari, Marc Labetoulle, Antoine Rousseau
High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)
Nina Xie, Qiying Sun, Jinxia Yang, Yangjie Zhou, Hongwei Xu, Lin Zhou, Yafang Zhou
Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients
Roman Panovský, Martin Pešl, Jan Máchal, Tomáš Holeček, Věra Feitová, Lenka Juříková, Lucia Masárová, Eva Pešlová, Lukáš Opatřil, Mary Luz Mojica-Pisciotti, Vladimír Kincl
Initial predictors for short-term prognosis in anti-melanoma differentiation-associated protein-5 positive patients
Qihua Yang, Tianfang Li, Xin Zhang, Kunlong Lyu, Shujun Wu, Yan Chen, Shengyun Liu, Zujiang Yu
A new method for individual condylar osteotomy and repositioning guides used in patients with severe deformity secondary to condylar osteochondroma
Lei Qi, Ningning Cao, Weiwen Ge, Tengfei Jiang, Linfeng Fan, Lei Zhang
Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)
N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin, G. Lina-Granade, C. Plault, C. Mottolese, R. Froissart, A. Fouilhoux
The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research
Heather B. Radtke, Bonita P. Klein-Tasman, Vanessa L. Merker, Pamela Knight, Nicole J. Ullrich, Justin T. Jordan, Bruce Korf, Scott R. Plotkin
Building a trusted framework for uncertainty assessment in rare diseases: suggestions for improvement (Response to “TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases”)
Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters, Manuela A. Joore
Diagnostic and severity scores for Cockayne syndrome
M. A. Spitz, F. Severac, C. Obringer, S. Baer, N. Le May, N. Calmels, V. Laugel
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy
Marie-Christine Reinert, David Pacheu-Grau, Claudia B. Catarino, Thomas Klopstock, Andreas Ohlenbusch, Michael Schittkowski, Ekkehard Wilichowski, Peter Rehling, Knut Brockmann
Experience of health care at a reference centre as reported by patients and parents of children with rare conditions
Monica Hytiris, Daisy Johnston, Shannon Mullen, Arlene Smyth, Elizabeth Dougan, Martina Rodie, S. Faisal Ahmed
Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Leverence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia
Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: a Spanish cross-sectional study
Mercedes Guilabert, Alba Martínez-García, Marina Sala-González, Olga Solas, José Joaquín Mira
Analysis of patient access to orphan drugs in Turkey
Güvenç Koçkaya, Sibel Atalay, Gülpembe Oğuzhan, Mustafa Kurnaz, Selin Ökçün, Çiğdem Sar Gedik, Mete Şaylan, Nazlı Şencan
Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome
Charlotte Höybye, Anthony J. Holland, Daniel J. Driscoll
Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups
David Rintell, Dena Heath, Florencia Braga Mendendez, Elizabeth Cross, Theodore Cross, Vincent Knobel, Bruno Gagnon, Cameron Turtle, Alan Cohen, Edward Kalmykov, Jonathan Fox
Role of patients associations in connective tissue calcifiying diseases: a position statement from EuroSoftCalc.Net group
Pedro Valdivielso, Marta Jacinto, Guillemette Devernois, Jorge Laplana, Maria García-Fernández, Ludovic Martin
Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency
Cormac McCarthy, Emmanuelle Bugnet, Amira Benattia, Michael P. Keane, Benoit Vedie, Gwenaël Lorillon, Abdellatif Tazi
Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases
Andreas Hentschel, Artur Czech, Ute Münchberg, Erik Freier, Ulrike Schara-Schmidt, Albert Sickmann, Jens Reimann, Andreas Roos
LRSAM1 and the RING domain: Charcot–Marie–Tooth disease and beyond
Paulius Palaima, José Berciano, Kristien Peeters, Albena Jordanova
Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe
F. Lamy, A. Ferlini, Dimitrios Athanasiou, Evy Reviers, François Lamy, Jean-Philippe Plançon, Judit Varadine Csapo, Madelon Kroneman, Marisol Montolio, Massimo Marra, Michela Onali, Patrizia Garzena, Teresinha Evangelista
How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study
Amy Simpson, Lara Bloom, Naomi J. Fulop, Emma Hudson, Kerry Leeson-Beevers, Stephen Morris, Angus I. G. Ramsay, Alastair G. Sutcliffe, Holly Walton, Amy Hunter
Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain
Esther Vicente, Ainara Ruiz de Sabando, Fermín García, Itziar Gastón, Eva Ardanaz, María A. Ramos-Arroyo
Do we always need to treat patients with spinal muscular atrophy? A personal view and experience
Caterina Agosto, Eleonora Salamon, Antuan Divisic, Francesca Benedetti, Luca Giacomelli, Aashni Shah, Giorgio Perilongo, Franca Benini
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale
Marc C. Patterson, Lucy Lloyd-Price, Christina Guldberg, Helen Doll, Claire Burbridge, Michael Chladek, Christine íDali, Eugen Mengel, Tara Symonds
Impact of pediatric hypophosphatasia on behavioral health and quality of life
Elizabeth I. Pierpont, Jill H. Simmons, Katherine J. Spurlock, Ryan Shanley, Kyriakie M. Sarafoglou
Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia
Youngbo Shim, Jung Min Ko, Tae-Joon Cho, Seung‐Ki Kim, Ji Hoon Phi
Survival outcomes of surgery in patients with pulmonary large-cell neuroendocrine carcinoma: a retrospective single-institution analysis and literature review
Yeye Chen, Jiaqi Zhang, Cheng Huang, Zhenhuan Tian, Xiaoyun Zhou, Chao Guo, Hongsheng Liu, Shanqing Li
Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers
Itana Gomes Alves Andrade, Fabíola Isabel Suano-Souza, Fernando Luiz Affonso Fonseca, Carolina Sanchez Aranda Lago, Roseli Oselka Saccardo Sarni
Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective
Maria João Pena, Alex Pinto, Manuela Ferreira de Almeida, Catarina de Sousa Barbosa, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Cláudia Camila Dias, Anita MacDonald, Nuno Borges, Júlio César Rocha
Consensuses and controversies on pseudomyxoma peritonei: a review of the published consensus statements and guidelines
Yu-Lin Lin, Da-Zhao Xu, Xin-Bao Li, Feng-Cai Yan, Hong-Bin Xu, Zheng Peng, Yan Li
Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study
William R. Lumry, Bruce Zuraw, Marco Cicardi, Timothy Craig, John Anderson, Aleena Banerji, Jonathan A. Bernstein, Teresa Caballero, Henriette Farkas, Richard G. Gower, Paul K. Keith, Donald S. Levy, H. Henry Li, Markus Magerl, Michael Manning, Marc A. Riedl, John-Philip Lawo, Subhransu Prusty, Thomas Machnig, Hilary Longhurst
Dalfampridine in the treatment of multiple sclerosis: a meta-analysis of randomised controlled trials
Enyao Zhang, Xin Tian, Ruoming Li, Chaoyang Chen, Min Li, Lingyun Ma, Ran Wei, Ying Zhou, Yimin Cui
Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)
Alessio Coi, Simone Barsotti, Michele Santoro, Fabio Almerigogna, Elena Bargagli, Marzia Caproni, Giacomo Emmi, Bruno Frediani, Serena Guiducci, Marco Matucci Cerinic, Marta Mosca, Paola Parronchi, Renato Prediletto, Enrico Selvi, Gabriele Simonini, Antonio Gaetano Tavoni, Fabrizio Bianchi, Anna Pierini
Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions
Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke, Bernard Debbaut, Katrien M. J. Devreese, François Eyskens, Céline Franken, Yves Gillerot, Béatrice Gulbis, Chantal Mathy, Marc Moens, Nathalie M. Vandevelde, Philippe Van de Walle, Pieter Vermeersch, Marie-Françoise Vincent
Correction to: Specific populations of urinary extracellular vesicles and proteins differentiate type 1 primary hyperoxaluria patients without and with nephrocalcinosis or kidney stones
Muthuvel Jayachandran, Stanislav V. Yuzhakov, Sanjay Kumar, Nicholas B. Larson, Felicity T. Enders, Dawn S. Milliner, Andrew D. Rule, John C. Lieske
The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients
Patrick Deegan, Aneal Khan, José Simon Camelo Jr, Julie L. Batista, Neal Weinreb
Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study
Isabelle Dreyfus, Aude Maza, Lauriane Rodriguez, Margot Merlos, Hélène Texier, Vanessa Rousseau, Agnès Sommet, Juliette Mazereeuw-Hautier
Clinical characteristics and burden of illness in patients with hereditary angioedema: findings from a multinational patient survey
Joan Mendivil, Ryan Murphy, Marie de la Cruz, Ellen Janssen, Henrik Balle Boysen, Gagan Jain, Emel Aygören-Pürsün, Ishan Hirji, Giovanna Devercelli
U-IMD: the first Unified European registry for inherited metabolic diseases
Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici, Stefan Kölker
“I have SMA, SMA doesn’t have me”: a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA
Allison Mazzella, Mary Curry, Lisa Belter, Rosángel Cruz, Jill Jarecki
Correction to: A Germany-wide survey study on the patient journey of patients with hereditary angioedema
Markus Magerl, Holger Gothe, Simon Krupka, Anja Lachmann, Christoph Ohlmeier
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
Laura Körber, Holm Schneider, Nicole Fleischer, Sigrun Maier-Wohlfart
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses
Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi
RDmap: a map for exploring rare diseases
Jian Yang, Cong Dong, Huilong Duan, Qiang Shu, Haomin Li
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze, Eva Morava
Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Leticia Belmont-Martínez, Carlos López-Candiani, Isabel Ibarra-González
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda, Laura Espinosa, Aniana Oliet, Antonio Vicente, Gema Ariceta, Fernando Santos
Impact of single and combined rare diseases on adult inpatient outcomes: a retrospective, cross-sectional study of a large inpatient population
Reka Maria Blazsik, Patrick Emanuel Beeler, Karol Tarcak, Marcus Cheetham, Viktor von Wyl, Holger Dressel
Changes in PCSK 9 and apolipoprotein B100 in Niemann–Pick disease after enzyme replacement therapy with olipudase alfa
Bethanie Garside, Jan Hoong Ho, See Kwok, Yifen Liu, Shaishav Dhage, Rachelle Donn, Zohaib Iqbal, Simon A. Jones, Handrean Soran
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients
Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avilés-Plaza, Guillermo Glover-López, Carmen Carazo-Díaz, Encarna Guillén-Navarro
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat
Kathryn M. Meurs, Brian G. Williams, Dylan DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco, Sandra Tou
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome
Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine, Veronika Dvorakova
Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients
J. Víšek, M. Bláha, V. Bláha, M. Lášticová, M. Lánska, C. Andrýs, J. Duintjer Tebbens, Ivone Cristina Igreja e Sá, K. Tripská, M. Vicen, I. Najmanová, P. Nachtigal
Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF
Francesco Bonella, Ilaria Campo, Michele Zorzetto, Eda Boerner, Shinichiro Ohshimo, Dirk Theegarten, Christian Taube, Ulrich Costabel
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli
Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
A comprehensive review of hydroxyurea for β-haemoglobinopathies: the role revisited during COVID-19 pandemic
Nirmani Yasara, Anuja Premawardhena, Sachith Mettananda
B cell‐activating factors in autoimmune pulmonary alveolar proteinosis
Masaki Hirose, Toru Arai, Chikatoshi Sugimoto, Takayuki Takimoto, Reiko Sugawara, Shojiro Minomo, Sayoko Shintani, Naoko Takeuchi, Kanako Katayama, Yasushi Inoue, Tomoko Kagawa, Takahiko Kasai, Masanori Akira, Yoshikazu Inoue
HINT1 neuropathy in Norway: clinical, genetic and functional profiling
Silvia Amor-Barris, Helle Høyer, Lin V. Brauteset, Els De Vriendt, Linda Strand, Albena Jordanova, Geir J. Braathen, Kristien Peeters
Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?
Stephanie Kourakis, Cara A. Timpani, Dean G. Campelj, Patricia Hafner, Nuri Gueven, Dirk Fischer, Emma Rybalka
Neuropsychiatric, cognitive and sexual impairment in mastocytosis patients
Fatma Jendoubi, Maella Severino-Freire, Mathilde Negretto, Christophe Arbus, Carle Paul, Cristina Bulai Livideanu
A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten jurisdictions in the Asia Pacific region
Claudia Ching Yan Chung, Yvette Nga Chung Ng, Ritu Jain, Brian Hon Yin Chung
Parent–child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish–German cross-sectional study
Stefanie Witt, Michaela Dellenmark-Blom, Susanne Kuckuck, Jens Dingemann, Kate Abrahamsson, Carmen Dingemann, John Eric Chaplin, Benno Ure, Monika Bullinger, Vladimir Gatzinsky, Linus Jönsson, Julia Hannah Quitmann
The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards better identification of rare diseases
Juan Rico, Luis Javier Echevarría-González de Garibay, María García-López, Sandra Guardiola-Vilarroig, Luis Alberto Maceda-Roldán, Óscar Zurriaga, Clara Cavero-Carbonell
Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants
Hui Zhu, Haijun Yao, Yue Xu, Yan Chen, Bing Han, Nan Wang, Hao Wang, Qiang Zhang, Wenjiao Zhu, Yuanping Shi, Hua Sun, Shuangxia Zhao, Huaidong Song, Yang Liu, Jie Qiao
Growth in ataxia telangiectasia
Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
Ting Chen, Lili Liang, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Bing Xiao, Hong Zhu, Lei Wang, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han
Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction
T. Morrison, F. Bösch, M. A. Landolt, V. Kožich, M. Huemer, A. A. M. Morris
Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study
Thirsa Conijn, Lotte Haverman, Frits A. Wijburg, Carlijn De Roos
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study
Andrea Rabenstein, Claudia B. Catarino, Verena Rampeltshammer, David Schindler, Constanze Gallenmüller, Claudia Priglinger, Oliver Pogarell, Tobias Rüther, Thomas Klopstock
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
Michalis Georgiou, Naser Ali, Elizabeth Yang, Parampal S. Grewal, Tryfon Rotsos, Nikolas Pontikos, Anthony G. Robson, Michel Michaelides
Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update
Teresa Schätzl, Lars Kaiser, Hans-Peter Deigner
First French study relative to preconception genetic testing: 1500 general population participants’ opinion
Valérie Bonneau, Mathilde Nizon, Xenia Latypova, Aurélie Gaultier, Eugénie Hoarau, Stéphane Bézieau, Guy Minguet, Mauro Turrini, Maud Jourdain, Bertrand Isidor
Diagnostic precision and identification of rare diseases is dependent on distance of residence relative to tertiary medical facilities
Anna-Lena Walter, Florent Baty, Frank Rassouli, Stefan Bilz, Martin Hugo Brutsche
Clinical characteristics and risk factors of intestinal involvement in Behçet’s syndrome patients: a cross-sectional study from a single center
Cheng-cheng Hou, Jing-fen Ye, Hai-fen Ma, Jian-long Guan
Pregnancy after the diagnosis of lymphangioleiomyomatosis (LAM)
Lisha Shen, Whenshuai Xu, Jinsong Gao, Jun Wang, Jiannan Huang, Yani Wang, Yudi He, Yanli Yang, Xinlun Tian, Kai-Feng Xu
Prevalence of extramammary Paget’s disease in urban China: a population-based study
Shilu Yin, Lu Xu, Shengfeng Wang, Jingnan Feng, Lili Liu, Guozhen Liu, Jinxi Wang, Siyan Zhan, Zhenmin Zhao, Pei Gao
Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases
Annemarie E. M. Post, Thomas Klockgether, G. Bernhard Landwehrmeyer, Massimo Pandolfo, Astri Arnesen, Carola Reinhard, Holm Graessner
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)
Brigitte W. M. Willemse, Saskia N. van der Crabben, Wilhelmina S. Kerstjens-Frederikse, Wim Timens, Joris M. van Montfrans, Caroline A. Lindemans, Jaap Jan Boelens, Marije P. Hennus, Gijs van Haaften
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava
Assessing rare diseases prevalence using literature quantification
Jason Shourick, Maxime Wack, Anne-Sophie Jannot
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta
Wouter Nijhuis, Anton Franken, Kara Ayers, Chantal Damas, Lars Folkestad, Antonella Forlino, Paolo Fraschini, Claire Hill, Guus Janus, Richard Kruse, Lena Lande Wekre, Lieve Michiels, Kathleen Montpetit, Leonardo Panzeri, Valerie Porquet-Bordes, Frank Rauch, Ralph Sakkers, Jean-Pierre Salles, Oliver Semler, Jony Sun, Michael To, Laura Tosi, Yangyang Yao, Eric Hiu Kwong Yeung, Lidiia Zhytnik, Maria Carola Zillikens, Marjolein Verhoef
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders
Hanns Lochmüller, Antonio Nino Ramirez, Emil Kakkis
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, Gavin Arno, Jane Ashworth, Isabelle Audo, Giacomo Bacci, Vilma Jurate Balciuniene, Sara Bargiacchi, Mette Bertelsen, Graeme Black, Camiel Boon, Dominique Bremond-Gignac, Luca Buzzonetti, Patrick Calvas, Adela Chirita-Emandi, Davit Chokoshvili, Frans Cremers, Avril Daly, Hélène Dollfus, Susan Downes, Adriano Fasolo, Christina Fasser, Dominik Fischer, Pina Fortunato, Arvydas Gelzinis, Karen Grønskov, Lonneke Haer-Wigman, Georgina Hall, Steffen Hamann, Elise Héon, Giancarlo Iarossi, Caroline Iberg, Gaëlle Jouanjan, Helena Kaariainen, Kamron Kahn, David Keegan, Artur Klett, Susanne Kohl, Michael Laengsfeld, Alberta Leon, Dorothée Leroux, Bart Peter Leroy, Petra Liskova, Birgit Lorenz, Riccardo Maggi, Joao Pedro Marques, Laura Mauring, Paolo Melico, Isabelle Meunier, Saddek Mohand-Saïd, Cristina Monterosso, Paola Morandi, Katarzyna Nowomiejska, Francesco Parmeggiani, Ilaria Passerini, Valérie Pelletier, Francesca Peluso, Yaumara Perdomo, Emilio Rapizzi, Laura Roos, Susanne Roosing, Jean-Michel Rozet, Panos Sergouniotis, Francesca Simonelli, Andrea Sodi, Jane Sowden, Katarina Stingl, Dominique Sturz, Marius Sukys, Agnese Suppiej, Gita Taurina, Francesco Testa, Anna Tracewska, Giovanna Traficante, Sandra Valeina, Caroline Van Cauwenbergh, Elfride De Baere, Russell Wheeler, Thomas Wheeler-Schilling, Patrick Yu-Wai-Man, Christina Zeitz, Reda Žemaitienė
Clinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys
Tom Burke, Sohaib Asghar, Jamie O’Hara, Eileen K. Sawyer, Nanxin Li
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series
Sebile Kılavuz, Sibel Basaran, Deniz Kor, Fatma Derya Bulut, Sevcan Erdem, Hüseyin Tuğsan Ballı, Muhammed Dağkıran, Atil Bisgin, Halise Neslihan Önenli Mungan
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Correction to: RarERN Path: a methodology towards the optimisation of patients’ care pathways in rare and complex diseases developed within the European Reference Networks
Rosaria Talarico, Sara Cannizzo, Valentina Lorenzoni, Diana Marinello, Ilaria Palla, Salvatore Pirri, Simone Ticciati, Leopoldo Trieste, Isotta Triulzi, Enrique Terol, Anna Bucher, Giuseppe Turchetti
Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
Antonietta Moramarco, Fabiana Mallone, Marta Sacchetti, Luca Lucchino, Emanuele Miraglia, Vincenzo Roberti, Alessandro Lambiase, Sandra Giustini
Hydroxyurea and blood transfusion therapy for Sickle cell disease in South Asia: inconsistent treatment of a neglected disease
Thamal Darshana, David Rees, Anuja Premawardhena
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
Yiming Lin, Weifeng Zhang, Chenggang Huang, Chunmei Lin, Weihua Lin, Weilin Peng, Qingliu Fu, Dongmei Chen
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy
Anna Lusakowska, Maria Jedrzejowska, Anna Kaminska, Katarzyna Janiszewska, Przemysław Grochowski, Janusz Zimowski, Janusz Sierdzinski, Anna Kostera-Pruszczyk
New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy
Edward H. Schuchman, Maria D. Ledesma, Calogera M. Simonaro
Clinical features of central nervous system involvement in patients with eosinophilic granulomatosis with polyangiitis: a retrospective cohort study in China
Suying Liu, Ling Guo, Xiaoyuan Fan, Zhaocui Zhang, Jiaxin Zhou, Xinping Tian, Mengtao Li, Xiaofeng Zeng, Li Wang, Fengchun Zhang
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
Katharina Vill, Oliver Schwartz, Astrid Blaschek, Dieter Gläser, Uta Nennstiel, Brunhilde Wirth, Siegfried Burggraf, Wulf Röschinger, Marc Becker, Ludwig Czibere, Jürgen Durner, Katja Eggermann, Bernhard Olgemöller, Erik Harms, Ulrike Schara, Heike Kölbel, Wolfgang Müller-Felber
Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda, Laura Espinosa, Aniana Oliet, Antonio Vicente, Gema Ariceta, Fernando Santos
Correction to: French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)
Benjamin Terrier, Raphaël Darbon, Cécile-Audrey Durel, Eric Hachulla, Alexandre Karras, Hélène Maillard, Thomas Papo, Xavier Puechal, Grégory Pugnet, Thomas Quemeneur, Maxime Samson, Camille Taille, Loïc Guillevin, Vincent Audard, Olivier Aumaitre, Karine Briot, Patrice Cacoub, Pascal Cathebras, Dominique Chauveau, Olivier Chosidow, Laurent Chouchana, Vincent Cottin, Divi Cornec, Eric Daugas, Elisabeth Diot, Nicolas Dupin, Khalil El Karoui, Olivier Fain, Pierre Gobert, Philippe Guilpain, Mohamed Hamidou, Aurélie Hummel, Marie Jachiet, Stéphane Jouneau, Noémie Jourde Chiche, Cédric Landron, Claire Le Jeunne, Jean-Christophe Lega, Xavier Mariette, Nathalie Morel, Christian Pagnoux, Philippe Remy, Frédéric Vandergheynst
Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study
Svein O. Fredwall, Britt Øverland, Hanne Berdal, Søren Berg, Harald Weedon-Fekjær, Ingeborg B. Lidal, Ravi Savarirayan, Grethe Månum
Economic burden in the management of transfusion-dependent thalassaemia patients in Malaysia from a societal perspective
Asrul Akmal Shafie, Jacqueline Hui Yi Wong, Hishamshah Mohd Ibrahim, Noor Syahireen Mohammed, Irwinder Kaur Chhabra
A framework for the evaluation of patients with congenital facial weakness
Bryn D. Webb, Irini Manoli, Elizabeth C. Engle, Ethylin W. Jabs
Clinical and genetic characteristics of hypophosphatasia in Chinese children
Meijuan Liu, Min Liu, Xuejun Liang, Di Wu, Wenjing Li, Chang Su, Bingyan Cao, Jiajia Chen, Chunxiu Gong
The prognosis of recurrent low-grade endometrial stromal sarcoma: a retrospective cohort study
Qianwen Dai, Baolin Xu, Huanwen Wu, Yan You, Ming Wu, Lei Li
Data silos are undermining drug development and failing rare disease patients
Nathan Denton, Monique Molloy, Samantha Charleston, Craig Lipset, Jonathan Hirsch, Andrew E. Mulberg, Paul Howard, Eric D. Marsh
The epidemiology of Moebius syndrome in Italy
Arturo Carta, Stefania Favilla, Giacomo Calzetti, Maria Cristina Casalini, Pier Francesco Ferrari, Bernardo Bianchi, Maria Beatrice Simonelli, Roberta Farci, Stefano Gandolfi, Paolo Mora
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy
Lorenza Magliano, Laura Obici, Claudia Sforzini, Anna Mazzeo, Massimo Russo, Francesco Cappelli, Silvia Fenu, Marco Luigetti, Matteo Tagliapietra, Chiara Gemelli, Luca Leonardi, Stefano Tozza, Luca Guglielmo Pradotto, Giulia Citarelli, Alessandro Mauro, Fiore Manganelli, Giovanni Antonini, Marina Grandis, Gian Maria Fabrizi, Mario Sabatelli, Davide Pareyson, Federico Perfetto, Giampaolo Merlini, Giuseppe Vita, Giulia Bisogni, Daniela Calabrese, Davide Cardellini, Silvia Casagrande, Tiziana Cavallaro, Eleonora Di Buduo, Andrea Di Paolantonio, Luca Gentile, Anita Graceffa, Sara Massucco, Alessandra Milesi, Stefania Morino, Roberta Mussinelli, Paola Saveri, Daniele Severi
eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)
Alessia Paglialonga, Raffaella Gaetano, Leema Robert, Marine Hurard, Luisa Maria Botella, Natasha Barr, Guillaume Jondeau, Alessandro Pini
Evaluating strategies to manage and endure challenging behaviors in mucopolysaccharidoses
Nathan Grant
Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis
Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder
Gabriel C. Dworschak, Heiko M. Reutter, Michael Ludwig
Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation
Mohammad Jakir Hosen, Saeed Anwar, Jarin Taslem Mourosi, Sourav Chakraborty, Md. Faruque Miah, Olivier M. Vanakker
Hypertrophy of unaffected cardiomyocytes correlates with severity of cardiomyopathy in female patients with Fabry disease
Cristina Chimenti, Romina Verardo, Andrea Frustaci
Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
Eva M. M. Hoytema van Konijnenburg, Saskia B. Wortmann, Marina J. Koelewijn, Laura A. Tseng, Roderick Houben, Sylvia Stöckler-Ipsiroglu, Carlos R. Ferreira, Clara D. M. van Karnebeek
Rare disease awareness and perspectives of physicians in China: a questionnaire-based study
Xuefeng Li, Xiangyu Zhang, Shu Zhang, Zijuan Lu, Jianyong Zhang, Jincheng Zhou, Bingzhe Li, Li Ou
Opioid-free anesthesia for patients with joint hypermobility syndrome undergoing craneo-cervical fixation: a case-series study focused on anti-hyperalgesic approach
Carlos Ramírez-Paesano, Albert Juanola Galceran, Claudia Rodiera Clarens, Vicenҫ Gilete García, Bartolomé Oliver Abadal, Verónica Vilchez Cobo, Bibiana Ros Nebot, Sara Julián González, Lucía Cao López, Jesús Santaliestra Fierro, Josep Rodiera Olivé
Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International
Danielle Drachmann, Erica Hoffmann, Austin Carrigg, Beccie Davis-Yates, Valerie Weaver, Paul Thornton, David A. Weinstein, Jacob S. Petersen, Pratik Shah, Henrik Thybo Christesen
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
Feng-Juan Gao, Dan-Dan Wang, Jian-Kang Li, Fang-Yuan Hu, Ping Xu, Fang Chen, Yu-He Qi, Wei Liu, Wei Li, Sheng-Hai Zhang, Qing Chang, Ge-Zhi Xu, Ji-Hong Wu
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa
Jean Yuh Tang, M. Peter Marinkovich, Eleanor Lucas, Emily Gorell, Albert Chiou, Ying Lu, Jodie Gillon, Dipen Patel, Dan Rudin
Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study
Marc Dommergues, Drina Candilis, Ludivine Becerra, Edith Thoueille, David Cohen, Sylvie Viaux-Savelon
Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)
Ana A. Francisco, Alaina S. Berruti, Frederick J. Kaskel, John J. Foxe, Sophie Molholm
Cost-of-illness studies in rare diseases: a scoping review
Lidia García-Pérez, Renata Linertová, Cristina Valcárcel-Nazco, Manuel Posada, Inigo Gorostiza, Pedro Serrano-Aguilar
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant
Claudia Mandato, Maria Anna Siano, Lucia Nazzaro, Monica Gelzo, Paola Francalanci, Francesca Rizzo, Ylenia D’Agostino, Manuela Morleo, Simona Brillante, Alessandro Weisz, Brunella Franco, Pietro Vajro
Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review
C. Ejerskov, M. Raundahl, P. A. Gregersen, M. M. Handrup
Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case–control study
Yifeng Ding, Ji Wang, Hao Zhou, Taoli Li, Shuizhen Zhou, Yi Wang
Classification of endonasal HHT lesions using digital microscopy
F. Haubner, A. Schneider, H. Schinke, M. Bertlich, B. G. Weiss, M. Canis, F. Kashani
The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases
P. K. Tandon, Emil D. Kakkis
Diagnostic delays in vasculitis and factors associated with time to diagnosis
Antoine G. Sreih, Keri Cronin, Dianne G. Shaw, Kalen Young, Cristina Burroughs, Joyce Kullman, Kirthi Machireddy, Carol A. McAlear, Peter A. Merkel
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
Sara E. Mole, Angela Schulz, Eben Badoe, Samuel F. Berkovic, Emily C. de Los Reyes, Simon Dulz, Paul Gissen, Norberto Guelbert, Charles M. Lourenco, Heather L. Mason, Jonathan W. Mink, Noreen Murphy, Miriam Nickel, Joffre E. Olaya, Maurizio Scarpa, Ingrid E. Scheffer, Alessandro Simonati, Nicola Specchio, Ina Von Löbbecke, Raymond Y. Wang, Ruth E. Williams
A multi-stakeholder multicriteria decision analysis for the reimbursement of orphan drugs (FinMHU-MCDA study)
Fernando de Andrés-Nogales, Encarnación Cruz, Miguel Ángel Calleja, Olga Delgado, Maria Queralt Gorgas, Jaime Espín, Jorge Mestre-Ferrándiz, Francesc Palau, Alba Ancochea, Rosabel Arce, Raquel Domínguez-Hernández, Miguel Ángel Casado, Pedro Gómez Pajuelo, Maria Queralt Gorgas Torner, Antonio López Andrés, Mónica López Rodríguez, Adela Marín Ballvé, María Isabel Martín Herranz, Alberto Morell Baladrón, Fernando Ignacio Sánchez Martínez, Alba Ancochea, Fernando Antoñanzas, Santiago Bonanad, Encarnación Cruz, Teresa Caballero, Juan Manuel Cabasés, Miguel Ángel Calleja, Jordi Cruz, Olga Delgado, Jaime Espín, Manuel García-Goñi, Ricardo Gil, Pedro Gómez Pajuelo, Maria Queralt Gorgas Torner, Antonio López Andrés, Mónica López Rodríguez, Adela Marín Ballvé, María Isabel Martín Herranz, Jorge Mestre-Ferrándiz, Alberto Morell Baladrón, Carlos Mur, Francesc Palau, Matilde P. Machado, Fernando Ignacio Sánchez Martínez, Alba R. Santos, Mónica Suárez, José Luis Trillo
Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study
Liz Gill, Sue Burrell, John Chamberlayne, Stephen Lombardelli, Jordanna Mora, Nicola Mason, Marieke Schurer, Madeline Merkel, Stephen Meninger, John J. Ko
Genotype characterization and delayed loss of ambulation by glucocorticoids in a large cohort of patients with Duchenne muscular dystrophy
Shu Zhang, Dongdong Qin, Liwen Wu, Man Li, Lifang Song, Cuijie Wei, Chunling Lu, Xiaoli Zhang, Siqi Hong, Mingming Ma, Shiwen Wu
Optimizing language for effective communication of gene therapy concepts with hemophilia patients: a qualitative study
Daniel P. Hart, Brian R. Branchford, Sarah Hendry, Robert Ledniczky, Robert F. Sidonio Jr., Claude Négrier, Michelle Kim, Michelle Rice, Matthew Minshall, Claire Arcé, Steve Prince, Maria Kelleher, Sharon Lee
Neonatal hyperinsulinism in transient and classical forms of tyrosinemia
Swathi Sethuram, Mark A. Sperling, Jasmine Gujral, Christopher J. Romero
The diffuse-type tenosynovial giant cell tumor (dt-TGCT) patient journey: a prospective multicenter study
Nicholas M. Bernthal, Geert Spierenburg, John H. Healey, Emanuela Palmerini, Sebastian Bauer, Bart Schreuder, Andreas Leithner, Javier Martin-Broto, Francois Gouin, Thomas Cosker, Hans Gelderblom, Eric L. Staals, Julio Lopez-Bastida, Eva-Maria Fronk, Xin Ye, Petra Laeis, Michiel A. J. van de Sande
A systematic review of case reports of hepatic actinomycosis
Zahra Chegini, Mojtaba Didehdar, Seidamir Pasha Tabaeian, Amin Khoshbayan, Aref Shariati
Medium-term outcomes after laparoscopic revision of laparoscopic Kasai portoenterostomy in patients with biliary atresia
Yi Ji, Xuepeng Zhang, Siyuan Chen, Yanan Li, Kaiying Yang, Jiangyuan Zhou, Zhicheng Xu
Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy
Silvio Quick, Max Winkler, Uwe Speiser, Karim Ibrahim, Jochen Schäfer, Axel Linke, Kun Zhang, Marian Christoph, Felix M. Heidrich
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
Sonia Pajares, Jose Antonio Arranz, Aida Ormazabal, Mireia Del Toro, Ángeles García-Cazorla, Aleix Navarro-Sastre, Rosa María López, Silvia María Meavilla, Mariela Mercedes de los Santos, Camila García-Volpe, Jose Manuel González de Aledo-Castillo, Ana Argudo, Jose Luís Marín, Clara Carnicer, Rafael Artuch, Frederic Tort, Laura Gort, Rosa Fernández, Judit García-Villoria, Antonia Ribes
PH CARE COVID survey: an international patient survey on the care for pulmonary hypertension patients during the early phase of the COVID-19 pandemic
Laurent Godinas, Keerthana Iyer, Gergely Meszaros, Rozenn Quarck, Pilar Escribano-Subias, Anton Vonk Noordegraaf, Pavel Jansa, Michele D’Alto, Milan Luknar, Senka Milutinov Ilic, Catharina Belge, Olivier Sitbon, Abílio Reis, Stephan Rosenkranz, Joanna Pepke-Zaba, Marc Humbert, Marion Delcroix
Ocular manifestations of ectodermal dysplasia
Daphna Landau Prat, William R. Katowitz, Alanna Strong, James A. Katowitz
How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system
Alexandra Berger, Anne-Kathrin Rustemeier, Jens Göbel, Dennis Kadioglu, Vanessa Britz, Katharina Schubert, Klaus Mohnike, Holger Storf, Thomas O. F. Wagner
Quality of life and its contributors among adults with late-onset Pompe disease in China
Shanquan Chen, Jingxuan Wang, Jianfeng Zhu, Roger Yat-Nork Chung, Dong Dong
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan
Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives
Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Joaquín J. Salas, José A. Sánchez-Alcázar
Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome
Helena Mosbah, Muriel Coupaye, Flavien Jacques, Maithé Tauber, Karine Clément, Jean-Michel Oppert, Christine Poitou
Clinical and laboratory prognosticators of atrophic papulosis (Degos disease): a systematic review
Justin D. Lu, Muskaan Sachdeva, Orli M. Silverberg, Lee Shapiro, David Croitoru, Rebecca Levy
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable
Thomas H. Brannagan III, Michaela Auer-Grumbach, John L. Berk, Chiara Briani, Vera Bril, Teresa Coelho, Thibaud Damy, Angela Dispenzieri, Brian M. Drachman, Nowell Fine, Hanna K. Gaggin, Morie Gertz, Julian D. Gillmore, Esther Gonzalez, Mazen Hanna, David R. Hurwitz, Sami L. Khella, Mathew S. Maurer, Jose Nativi-Nicolau, Kemi Olugemo, Luis F. Quintana, Andrew M. Rosen, Hartmut H. Schmidt, Jacqueline Shehata, Marcia Waddington-Cruz, Carol Whelan, Frederick L. Ruberg
A qualitative investigation into the impact of hemophagocytic lymphohistiocytosis on children and their caregivers
Annabel Nixon, Elina Roddick, Karen Moore, Diane Wild
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision
Dustin Baldridge, Michael F. Wangler, Angela N. Bowman, Shinya Yamamoto, Maria T. Acosta, Margaret Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Edward Behrens, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter Byers, William E. Byrd, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Sirisak Chanprasert, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Matthew Deardorff, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Marni Falk, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Laurie C. Findley, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, William A. Gahl, Ian Glass, Bernadette Gochuico, Rena A. Godfrey, Katie Golden-Grant, Alica M. Goldman, Madison P. Goldrich, David B. Goldstein, Alana Grajewski, Catherine A. Groden, Irma Gutierrez, Sihoun Hahn, Rizwan Hamid, Neil A. Hanchard, Kelly Hassey, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Laryssa Huryn, Rosario Isasi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Lefkothea Karaviti, Jennifer Kennedy, Dana Kiley, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Susan Korrick, Mary Koziura, Joel B. Krier, Seema R. Lalani, Byron Lam, Christina Lam, Grace L. LaMoure, Brendan C. Lanpher, Ian R. Lanza, Lea Latham, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, John MacDowall, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, Bryan C. Mak, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Elisabeth McGee, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava, Paolo M. Moretti, Deborah Mosbrook-Davis, John J. Mulvihill, David R. Murdock, Anna Nagy, Mariko Nakano-Okuno, Avi Nath, Stan F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Shirley Nieves-Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina GS. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips III, Jennifer E. Posey, Lorraine Potocki, Bradley Power, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, Archana N. Raja, Deepak A. Rao, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, C. Ron Scott, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Vandana Shashi, Jimann Shin, Rebecca Signer, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Emily Solem, Lilianna Solnica-Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Jennifer A. Sullivan, Kathleen Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Amelia L. M. Tan, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Audrey Thurm, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Brianna M. Tucker, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Stephanie Wallace, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Mark Wener, Tara Wenger, Katherine Wesseling Perry, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Jeremy D. Woods, Shinya Yamamoto, John Yang, Muhammad Yousef, Diane B. Zastrow, Wadih Zein, Chunli Zhao, Stephan Zuchner, Tim Schedl, Stephen C. Pak, John H. Postlethwait, Jimann Shin, Lilianna Solnica-Krezel, Hugo J. Bellen, Monte Westerfield
The incidence of hydrocephalus among patients with and without spinal muscular atrophy (SMA): Results from a US electronic health records study
Emma Viscidi, Nasha Wang, Maneesh Juneja, Ishir Bhan, Claudia Prada, Dayle James, Stacie Lallier, Corinne Makepeace, Karen Laird, Susan Eaton, Anne Dilley, Susan Hall
A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation
Shengcai Wang, Wei Wang, Xuexi Zhang, Jingang Gui, Jie Zhang, Yongli Guo, Yuanhu Liu, Lin Han, Qiaoyin Liu, Yanzhen Li, Nian Sun, Zhiyong Liu, Jiangnan Du, Jun Tai, Xin Ni
Validating online approaches for rare disease research using latent class mixture modeling
Andrew A. Dwyer, Ziwei Zeng, Christopher S. Lee
Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network
Kimberly LeBlanc, Emily G. Kelley, Anna Nagy, Jorick Bater, Tala Berro, Molly A. McGuinness, Courtney Studwell, Matthew Might
The impact of severe rare chronic neurological disease in childhood on the quality of life of families—a study on MLD and PCH2
Louisa Ammann-Schnell, Samuel Groeschel, Christiane Kehrer, Saskia Frölich, Ingeborg Krägeloh-Mann
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt
Correction to: Assessing rare diseases prevalence using literature quantification
Jason Shourick, Maxime Wack, Anne-Sophie Jannot
Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population
Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections
Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier
Involvement of mental health professionals in the treatment of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey
Robert Waltereit, Guillaume Beaure d’Augères, Jasna Jancic, John Chris Kingswood, Maya Koleva, Ruben Marques, Vicente Villanueva, Stéphane Auvin
Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)
Paul Gissen, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen, Angela Schulz
The impact of rarity in NICE’s health technology appraisals
Sophie Clarke, Michelle Ellis, Jack Brownrigg
Calcium channelopathies and intellectual disability: a systematic review
Miriam Kessi, Baiyu Chen, Jing Peng, Fangling Yan, Lifen Yang, Fei Yin
Long-term renal outcome in methylmalonic acidemia in adolescents and adults
Myriam Dao, Jean-Baptiste Arnoux, Frank Bienaimé, Anaïs Brassier, François Brazier, Jean-François Benoist, Clément Pontoizeau, Chris Ottolenghi, Pauline Krug, Olivia Boyer, Pascale de Lonlay, Aude Servais
Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa
J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout, H. H. Huidekoper
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy
Ana B. Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, Beatriz Ponte-Zuñiga, Francisco J. Diaz-Corrales, Berta de la Cerda
Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families
Xiaowen Hu, Guofeng Zhang, Xianmeng Chen, Kai-Feng Xu
C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China
Yiming Lin, Zhantao Yang, Chiju Yang, Haili Hu, Haiyan He, Tingting Niu, Mingfang Liu, Dongjuan Wang, Yun Sun, Yuyan Shen, Xiaole Li, Huiming Yan, Yuanyuan Kong, Xinwen Huang
Clinical patterns and the evolution of relapsing polychondritis based on organ involvement: a Chinese retrospective cohort study
Lei Zhang, Shuang Yun, Tiange Wu, Yujie He, Jinyan Guo, Lishuai Han, Jiameng Lu, Xiaojun Liu, Rui Yang, Shitao Zhang, Tianfang Li, Shengyun Liu
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance
Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Francisco Arrieta, Victor Quintero, Maria Soledad Maldonado, Patricia Alcaide, Mercedes Martínez-Pardo
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel, Florian S. Eichler
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans
Christian Schwarm, Damian Gola, Maike M. Holtsche, Anabelle Dieterich, Anita Bhandari, Miriam Freitag, Peter Nürnberg, Mohammad Toliat, Wolfgang Lieb, Michael Wittig, André Franke, Margitta Worm, Michael Sticherling, Jan Ehrchen, Claudia Günther, Regine Gläser, Wiebke K. Peitsch, Miklós Sárdy, Rüdiger Eming, Michael Hertl, Sandrine Benoit, Matthias Goebeler, Claudia Pföhler, Manfred Kunz, Alexander Kreuter, Nina van Beek, Jeanette Erdmann, Hauke Busch, Detlef Zillikens, Christian D. Sadik, Misa Hirose, Inke R. König, Enno Schmidt, Saleh M. Ibrahim
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro, Carlo Dionisi-Vici
Lymphoproliferative malignancies in patients with neurofibromatosis 1
Christina Bergqvist, François Hemery, Arnaud Jannic, Salah Ferkal, Pierre Wolkenstein
Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
Angela L. Duker, Dagmar Kinderman, Christy Jordan, Tim Niiler, Carissa M. Baker-Smith, Louise Thompson, David A. Parry, Ricki S. Carroll, Michael B. Bober
Effects of thymectomy on late-onset non-thymomatous myasthenia gravis: systematic review and meta-analysis
Jinwei Zhang, Yuan Chen, Hui Zhang, Zhaoyu Yang, Peng Zhang
Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher
The mediating effects of quality of life, depression, and generalized anxiety on perceived barriers to employment success for people diagnosed with Neurofibromatosis Type 1
Frank D. Buono, Matthew E. Sprong, Erina Paul, Staci Martin, Kaitlyn Larkin, Amir Garakani
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
Jane E. Potter, Gemma Petts, Arunabha Ghosh, Fiona J. White, Jane L. Kinsella, Stephen Hughes, Jane Roberts, Adam Hodgkinson, Kathryn Brammeier, Heather Church, Christine Merrigan, Joanne Hughes, Pamela Evans, Helen Campbell, Denise Bonney, William G. Newman, Brian W. Bigger, Alexander Broomfield, Simon A. Jones, Robert F. Wynn
Towards an ICF-based self-report questionnaire for people with skeletal dysplasia to study health, functioning, disability and accessibility
Heidi Anttila, Susanna Tallqvist, Minna Muñoz, Sanna Leppäjoki-Tiistola, Outi Mäkitie, Sinikka Hiekkala
The clinical course of Duchenne muscular dystrophy in the corticosteroid treatment era: a systematic literature review
Shelagh M. Szabo, Renna M. Salhany, Alison Deighton, Meagan Harwood, Jean Mah, Katherine L. Gooch
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia
The genetic basis of classical galactosaemia in Polish patients
Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska
Lessons learned from hemolytic uremic syndrome registries: recommendations for implementation
Mina Lazem, Abbas Sheikhtaheri, Nakysa Hooman
Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities
Yana Puckett, Alejandra Mallorga-Hernández, Adriana M. Montaño
Clinical and genetic findings in patients with congenital cataract and heart diseases
Xinru Li, Nuo Si, Zixun Song, Yaqiong Ren, Wei Xiao
Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis
Elena Cristina De Sautu De Borbón, Juan Manuel Guerra Vales, Carlos Lumbreras Bermejo, Felix Guerrero Ramos, María José Buj Padilla, Jesús González de la Aleja, Montserrat Morales Conejo
Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients
Xiaohui Duan, Xiaoxuan Liu, Guochun Wang, Weihong Gu, Min Xu, Ying Hao, Mingrui Dong, Qing Sun, Shaojie Sun, Yuanyuan Chen, Wei Wang, Jing Li, Yuting Zhang, Zhenhua Cao, Dongsheng Fan, Renbin Wang, Yuwei Da
Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype–phenotype correlations in improving risk stratification—a literature review
Roland Stengl, Bence Ágg, Miklós Pólos, Gábor Mátyás, Gábor Szabó, Béla Merkely, Tamás Radovits, Zoltán Szabolcs, Kálmán Benke
Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali
Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction
Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Leverence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia
Correction to: Growth in ataxia telangiectasia
Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman
Differences in health care experiences between rare cancer and common cancer patients: results from a national cross-sectional survey
Eline de Heus, Vivian Engelen, Irene Dingemans, Carol Richel, Marga Schrieks, Jan Maarten van der Zwan, Marc G. Besselink, Mark I. van Berge Henegouwen, Carla M. L. van Herpen, Saskia F. A. Duijts
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature
Johann Philipp Zöllner, Janina Grau, Felix Rosenow, Matthias Sauter, Markus Knuf, Gerhard Kurlemann, Thomas Mayer, Christoph Hertzberg, Astrid Bertsche, Ilka Immisch, Karl Martin Klein, Susanne Knake, Klaus Marquard, Sascha Meyer, Anna H. Noda, Felix von Podewils, Hannah Schäfer, Charlotte Thiels, Laurent M. Willems, Bianca Zukunft, Susanne Schubert-Bast, Adam Strzelczyk
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results
Giulia Bassanese, Tanja Wlodkowski, Aude Servais, Laurence Heidet, Dario Roccatello, Francesco Emma, Elena Levtchenko, Gema Ariceta, Justine Bacchetta, Giovambattista Capasso, Augustina Jankauskiene, Marius Miglinas, Pietro Manuel Ferraro, Giovanni Montini, Jun Oh, Stephane Decramer, Tanja Kersnik Levart, Jack Wetzels, Elisabeth Cornelissen, Olivier Devuyst, Aleksandra Zurowska, Lars Pape, Anja Buescher, Dieter Haffner, Natasa Marcun Varda, Gian Marco Ghiggeri, Giuseppe Remuzzi, Martin Konrad, Germana Longo, Detlef Bockenhauer, Atif Awan, Ilze Andersone, Jaap W. Groothoff, Franz Schaefer
Correction to: Comprehensive genetic characteristics of dystrophinopathies in China
Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu, Yuying Zhao
Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis
Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia
Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza, Ida V. D. Schwartz
Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review
Tracey Jones-Hughes, Jo Campbell, Louise Crathorne
Treatment adherence in tyrosinemia type 1 patients
Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce, Luís Aldámiz-Echevarría
RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi, Francesca Simonelli
Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies
Ying Zhu, Ruyi Wang, Yun Cheng, Yang Han, Tengyan Li, Yunxia Cao, Binbin Wang
Maternal bile acid profile and subtype analysis of intrahepatic cholestasis of pregnancy
Yong Shao, Siyu Chen, Huan Li, Qin Tang, Di Xu
Sirolimus in the treatment of kaposiform lymphangiomatosis
Jiangyuan Zhou, Kaiying Yang, Siyuan Chen, Yi Ji
Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history
Yu-Liang Jiang, Xiao-Dong Xu, Bai-Rong Li, En-Da Yu, Zi-Ye Zhao, Hong Liu
Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai
Xiaoshu Cai, Georgi Z. Genchev, Ping He, Hui Lu, Guangjun Yu
Deliberate paradigm shift in research in rare neurodevelopmental disorders
Jennifer M. Bain, Adel Ardalan, Sylvie Goldman
Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults
Chad Gwaltney, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love, Alan Shields
Using four decades of FDA orphan drug designations to describe trends in rare disease drug development: substantial growth seen in development of drugs for rare oncologic, neurologic, and pediatric-onset diseases
Kathleen L. Miller, Lewis J. Fermaglich, Janet Maynard
Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden
Juan González-Moreno, Aina Gaya-Barroso, Inés Losada-López, Adrián Rodríguez, Teresa Bosch-Rovira, Tomás Ripoll-Vera, Mercedes Usón, Antoni Figuerola, Cristina Descals, Carles Montalà, María Asunción Ferrer-Nadal, Eugenia Cisneros-Barroso
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
Pascal Brouillard, Matthieu J. Schlögel, Nassim Homayun Sepehr, Raphaël Helaers, Angela Queisser, Elodie Fastré, Simon Boutry, Sandra Schmitz, Philippe Clapuyt, Frank Hammer, Anne Dompmartin, Annamaria Weitz-Tuoretmaa, Jussi Laranne, Louise Pasquesoone, Catheline Vilain, Laurence M. Boon, Miikka Vikkula
Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1
Yiping Cheng, Jing Chen, Xinli Zhou, Jiangfei Yang, Yiming Ji, Chao Xu
Outcome of L-DEP regimen for treatment of pediatric chronic active Epstein–Barr virus infection
Honghao Ma, Liping Zhang, Ang Wei, Jun Yang, Dong Wang, Qing Zhang, Yunze Zhao, Sitong Chen, Hongyun Lian, Li Zhang, Chunju Zhou, Maoquan Qin, Zhigang Li, Tianyou Wang, Rui Zhang
Dual inhibition of complement component 5 and leukotriene B4 by topical rVA576 in atopic keratoconjunctivis: TRACKER phase 1 clinical trial results
Sara Sánchez-Tabernero, Julia Fajardo-Sanchez, Wynne Weston-Davies, Mohit Parekh, Jaime Kriman, Stephen Kaye, Sajjad Ahmad
Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care
M. Marro, S. De Smet, D. Caldari, C. Lambe, S. Leclerc-Mercier, C. Chiaverini
Frequency detection of BRAF V600E mutation in a cohort of pediatric langerhans cell histiocytosis patients by next-generation sequencing
Shunqiao Feng, Lin Han, Mei Yue, Dixiao Zhong, Jing Cao, Yibing Guo, Yanling Sun, Hao Zhang, Zhenhua Cao, Xiaodai Cui, Rong Liu
The etiology of diffuse cystic lung diseases: an analysis of 1010 consecutive cases in a LAM clinic
Han Cui, Chongsheng Cheng, Wenshuai Xu, Xinlun Tian, Yanli Yang, Yani Wang, Jiannan Huang, Yudi He, Jun Wang, Ruie Feng, Weihong Zhang, Kai-Feng Xu
Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study
Jiao Zhang, Xulei Cui, Si Chen, Yi Dai, Yuguang Huang, Shuyang Zhang
Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
Francesca Gorini, Alessio Coi, Lorena Mezzasalma, Silvia Baldacci, Anna Pierini, Michele Santoro
Sleep and physical activity patterns in adults and children with Bardet–Biedl syndrome
Jeremy Pomeroy, Jeffrey J. VanWormer, Jill R. Meilahn, Tara Maki, Hema R. Murali, Robert M. Haws
Sequential everolimus for angiomyolipoma associated with tuberous sclerosis complex: a prospective cohort study
Liangyou Gu, Cheng Peng, Fan Zhang, Cunjin Fang, Gang Guo
Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy
Ren-Juan Shen, Jun-Gang Wang, Yang Li, Zi-Bing Jin
68Ga-NOTA-Evans Blue PET/CT findings in lymphangioleiomyomatosis compared with 99mTC-ASC lymphoscintigraphy: a prospective study
Guozhu Hou, Yuanyuan Jiang, Wenshuai Xu, Zhaohui Zhu, Li Huo, Xiaoyuan Chen, Fang Li, Kai-Feng Xu, Wuying Cheng
Reducing the diagnostic delay in Antiphospholipid Syndrome over time: a real world observation
Massimo Radin, Silvia Grazietta Foddai, Alice Barinotti, Irene Cecchi, Elena Rubini, Savino Sciascia, Dario Roccatello
Hemophagocytic lymphohistiocytosis during pregnancy: a review of the literature in epidemiology, pathogenesis, diagnosis and treatment
Lidong Liu, Yutong Cui, Qiongjie Zhou, Huanqiang Zhao, Xiaotian Li
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study
Janina Grau, Johann Philipp Zöllner, Susanne Schubert-Bast, Gerhard Kurlemann, Christoph Hertzberg, Adelheid Wiemer-Kruel, Thomas Bast, Astrid Bertsche, Ulrich Bettendorf, Barbara Fiedler, Andreas Hahn, Hans Hartmann, Frauke Hornemann, Ilka Immisch, Julia Jacobs, Matthias Kieslich, Karl Martin Klein, Kerstin A. Klotz, Gerhard Kluger, Markus Knuf, Thomas Mayer, Klaus Marquard, Sascha Meyer, Hiltrud Muhle, Karen Müller-Schlüter, Anna H. Noda, Susanne Ruf, Matthias Sauter, Jan-Ulrich Schlump, Steffen Syrbe, Charlotte Thiels, Regina Trollmann, Bernd Wilken, Laurent M. Willems, Felix Rosenow, Adam Strzelczyk
Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands
Hans C. J. W. Kerstens, Bas J. H. Van Lith, Maarten J. Nijkrake, Bert J. M. De Swart, Laura A. C. Van den Bemd, Rob J. E. M. Smeets, Fheodoroff Klemens, Bart P. C. Van de Warrenburg, Philip J. Van der Wees, Alexander C. H. Geurts
Causative variant profile of collagen VI-related dystrophy in Japan
Michio Inoue, Yoshihiko Saito, Takahiro Yonekawa, Megumu Ogawa, Aritoshi Iida, Ichizo Nishino, Satoru Noguchi
Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease
Alaa Hamed, Pronabesh DasMahapatra, Nicole Lyn, Chad Gwaltney, Robert J. Hopkin
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Factor VIII replacement prophylaxis in patients with hemophilia A transitioning to adults: a systematic literature review
Jing Sun, Xuan Zhou, Nan Hu
Gene expression analysis in EBV-infected ataxia-telangiectasia cell lines by RNA-sequencing reveals protein synthesis defect and immune abnormalities
Moussab Tatfi, Emeline Perthame, Kenzo-Hugo Hillion, Marie-Agnès Dillies, Hervé Menager, Olivier Hermine, Felipe Suarez
Which triggers could support timely identification of primary antibody deficiency? A qualitative study using the patient perspective
Lisanne M. A. Janssen, Kim van den Akker, Mohamed A. Boussihmad, Esther de Vries
Metabolic and immunological phenotype of rare lipomatoses: Dercum’s disease and Roch-Leri mesosomatic lipomatosis
Madleen Lemaitre, Benjamin Chevalier, Arnaud Jannin, Kristell Le Mapihan, Samuel Boury, Georges Lion, Myriam Labalette, Marie-Christine Vantyghem
Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum
Elvia C. Mendoza-Caamal, Francisco Barajas-Olmos, Elaheh Mirzaeicheshmeh, Ian Ilizaliturri-Flores, Carlos A. Aguilar-Salinas, Donaji V. Gómez-Velasco, Isabel Cicerón-Arellano, Adriana Reséndiz-Rodríguez, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Sergio Islas-Andrade, Carlos Zerrweck, Humberto García-Ortiz, Lorena Orozco
A systematic review of moral reasons on orphan drug reimbursement
Bettina M. Zimmermann, Johanna Eichinger, Matthias R. Baumgartner
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
Xinyue Zhao, Chun Bian, Keqiang Liu, Wenshuai Xu, Yaping Liu, Xinlun Tian, Jing Bai, Kai-Feng Xu, Xue Zhang
Economic burden and health-related quality of life in tenosynovial giant-cell tumour patients in Europe: an observational disease registry
J. Lopez-Bastida, I. Aranda-Reneo, B. Rodríguez-Sánchez, L. M. Peña-Longobardo, X. Ye, P. Laeis, E. M. Fronk, E. Palmerini, A. Leithner, M. A. J. Van de Sande
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen, Saskia B. Wortmann
Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series
Ya-Bing Wang, Ou Wang, Min Nie, Yan Jiang, Mei Li, Wei-Bo Xia, Xiao-Ping Xing
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
Gilyazetdinov Kamil, Ju Young Yoon, Sukdong Yoo, Chong Kun Cheon
Quantitative parameters of lymphocyte nuclear morphology in bronchoalveolar lavage fluid as novel biomarkers for sarcoidosis
Yasushi Horimasu, Kakuhiro Yamaguchi, Shinjiro Sakamoto, Takeshi Masuda, Shintaro Miyamoto, Taku Nakashima, Hiroshi Iwamoto, Kazunori Fujitaka, Hironobu Hamada, Noboru Hattori
Everolimus versus sirolimus for angiomyolipoma associated with tuberous sclerosis complex: a multi-institutional retrospective study in China
Cong Luo, Yu-Shi Zhang, Ming-Xin Zhang, Min-Feng Chen, Yuan Li, Lin Qi, Han-Zhong Li, Xiong-Bin Zu, Yi Cai
Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata
Tarik Luisman, Tara Smith, Shawn Ritchie, Karen E. Malone
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna Jansen, J. Chris Kingswood, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayse Serdaroglu, Zuhal Yapici, Banu Anlar, Sakir Altunbasak, Olga Lvova, Oleg Valeryevich Belyaev, Oleg Agranovich, Elena Vladislavovna Levitina, Yulia Vladimirovna Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kaifeng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo YAN, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei-Lung Chen, Hsiu-Fen Lee, Jeng-Dau Tsai, Ching-Shiang Chi, Chao-Ching Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Lunliya Thampratankul Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sriudomkajorn, Jo Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal- Valevski, Panagiotis Papathanasopoulos, Antigone Syrigou Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc Dhooghe, Hélène Verhelst, Filip Roelens, Marie Cecile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne De Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cances, Jean-Michel Pedespan, Dorothee Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Gueden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Campistol Planas, Antonio Martinez Bermejo, Patricia Smeyers Dura, Susana Roldan Aparicio, Maria Jesus Martinez Gonzalez, Javier Lopez Pison, Manuel Oscar Blanco Barca, Eduardo Lopez Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Malaga Dieguez, Ana Camacho Salas, Itxaso Marti Carrera, Eduardo Martinez Salcedo, Maria Eugenia Yoldi Petri, Ramon Cancho Candela, Ines da Conceicao Carrilho, Jose Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endziniene, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vintan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Zilinska, Ursula Gruber-Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostasy, Ekaterina Pataraia, Frances Elmslie, Clare Ann Johnston, Pamela Crawford, Peter Uldall, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer-Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann
Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome
Elżbieta Radzikowska, Urszula Lechowicz, Jolanta Winek, Lucyna Opoka
Integrated in silico MS-based phosphoproteomics and network enrichment analysis of RASopathy proteins
Javier-Fernando Montero-Bullón, Óscar González-Velasco, María Isidoro-García, Jesus Lacal
Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)
Takashi Nakajima, Yoshiyuki Sankai, Shinjiro Takata, Yoko Kobayashi, Yoshihito Ando, Masanori Nakagawa, Toshio Saito, Kayoko Saito, Chiho Ishida, Akira Tamaoka, Takako Saotome, Tetsuo Ikai, Hisako Endo, Kazuhiro Ishii, Mitsuya Morita, Takashi Maeno, Kiyonobu Komai, Tetsuhiko Ikeda, Yuka Ishikawa, Shinichiro Maeshima, Masashi Aoki, Michiya Ito, Tatsuya Mima, Toshihiko Miura, Jun Matsuda, Yumiko Kawaguchi, Tomohiro Hayashi, Masahiro Shingu, Hiroaki Kawamoto
Is ghrelin a biomarker of early-onset scoliosis in children with Prader–Willi syndrome?
Dibia Liz Pacoricona Alfaro, Gwenaelle Diene, Graziella Pinto, Jean-Pierre Salles, Isabelle Gennero, Sandy Faye, Catherine Molinas, Marion Valette, Catherine Arnaud, Maithé Tauber
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
Guillaume Canaud, Adrienne M. Hammill, Denise Adams, Miikka Vikkula, Kim M. Keppler-Noreuil
Clinical, molecular and glycophenotype insights in SLC39A8-CDG
Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandrì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni, Roberta Battini
Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group
William A. Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello, Stephen Groft
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome
Tommaso Lo Barco, Mathieu Kuchenbuch, Nicolas Garcelon, Antoine Neuraz, Rima Nabbout
The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis
Janet C. Long, Stephanie Best, Sarah Hatem, Tahlia Theodorou, Toni Catton, Sean Murray, Jeffrey Braithwaite, John Christodoulou
Glaucoma in mucopolysaccharidoses
Weijing Kong, Jing Zhang, Cheng Lu, Yingxue Ding, Yan Meng
Navigating the U.S. health insurance landscape for children with rare diseases: a qualitative study of parents’ experiences
Tai L. S. Pasquini, Sarah L. Goff, Jennifer M. Whitehill
Haploidentical haematopoietic stem cell transplantation for malignant infantile osteopetrosis and intermediate osteopetrosis: a retrospective analysis of a single centre
Guanghua Zhu, Ang Wei, Bin Wang, Jun Yang, Yan Yan, Kai Wang, Chenguang Jia, Yanhui Luo, Sidan Li, Xuan Zhou, Tianyou Wang, Huyong Zheng, Maoquan Qin
The parental perspective of thalassaemia in Bangladesh: lack of knowledge, regret, and barriers
Mohammad Sorowar Hossain, Md. Mahbub Hasan, Mary Petrou, Paul Telfer, Abdullah Al Mosabbir
Gene therapies and COVID-19 vaccines: a necessary discussion in relation with viral vector-based approaches
Angel Aledo-Serrano, Antonio Gil-Nagel, Julian Isla, Ana Mingorance, Fernando Mendez-Hermida, Ruben Hernandez-Alcoceba
A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
Marwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard, Chahnez Triki
Normative data on spontaneous stride velocity, stride length, and walking activity in a non-controlled environment
Margaux Poleur, Ana Ulinici, Aurore Daron, Olivier Schneider, Fabian Dal Farra, Marie Demonceau, Mélanie Annoussamy, David Vissière, Damien Eggenspieler, Laurent Servais
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort
Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong
Correction to: Building a trusted framework for uncertainty assessment in rare diseases: suggestions for improvement (Response to “TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases”)
Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters, Manuela A. Joore
Correction to: A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation
Shengcai Wang, Wei Wang, Xuexi Zhang, Jingang Gui, Jie Zhang, Yongli Guo, Yuanhu Liu, Lin Han, Qiaoyin Liu, Yanzhen Li, Nian Sun, Zhiyong Liu, Jiangnan Du, Jun Tai, Xin Ni
A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry
Marie Julianne C. Racoma, Maria Kristina Karizza B. Calibag, Cynthia P. Cordero, Mary Ann R. Abacan, Mary Anne D. Chiong
Clinical features and treatment efficacy for IgG4-related thyroiditis
Xinxin Han, Panpan Zhang, Jieqiong Li, Zheng Liu, Hui Lu, Xuan Luo, Boju Pan, Xiaolan Lian, Xuejun Zeng, Wen Zhang, Xiaofeng Zeng
Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients
Muriel Coupaye, Virginie Laurier, Grégoire Benvegnu, Christine Poitou, Pauline Faucher, Héléna Mosbah, Gwenaelle Diene, Graziella Pinto, Laura González Briceño, Christine Merrien, Ana Camarena Toyos, Emilie Montastier, Maithé Tauber, Fabien Mourre
The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis
Judith Leyens, Tim Th. A. Bender, Martin Mücke, Christiane Stieber, Dmitrij Kravchenko, Christian Dernbach, Matthias F. Seidel
A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China
Xuefeng Li, Meiling Liu, Jinduan Lin, Bingzhe Li, Xiangyu Zhang, Shu Zhang, Zijuan Lu, Jianyong Zhang, Jincheng Zhou, Li Ou
The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness
Aaron Spahr, Zaliqa Rosli, Mélanie Legault, Luan T. Tran, Simon Fournier, Helia Toutounchi, Lama Darbelli, Cécile Madjar, Cassandra Lucia, Marie-Lou St-Jean, Samir Das, Alan C. Evans, Geneviève Bernard
Correction to: Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study
William R. Lumry, Bruce Zuraw, Marco Cicardi, Timothy Craig, John Anderson, Aleena Banerji, Jonathan A. Bernstein, Teresa Caballero, Henriette Farkas, Richard G. Gower, Paul K. Keith, Donald S. Levy, H. Henry Li, Markus Magerl, Michael Manning, Marc A. Riedl, John-Philip Lawo, Subhransu Prusty, Thomas Machnig, Hilary Longhurst
Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy
Maren Freigang, Petra Steinacker, Claudia Diana Wurster, Olivia Schreiber-Katz, Alma Osmanovic, Susanne Petri, Jan Christoph Koch, Kevin Rostásy, Björn Falkenburger, Albert Christian Ludolph, Markus Otto, Andreas Hermann, René Günther
Mature B cell acute lymphoblastic leukaemia with KMT2A-MLLT3 transcripts in children: three case reports and literature reviews
Yinghui Cui, Min Zhou, Pinli Zou, Xin Liao, Jianwen Xiao
Health Disparities among adults cared for at an urban cystic fibrosis program
Emily DiMango, Kaitlyn Simpson, Elizabeth Menten, Claire Keating, Weijia Fan, Cheng-Shiun Leu
The first European consensus on principles of management for achondroplasia
Valerie Cormier-Daire, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Sérgio Bernardo de Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike
Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation
Xuechao Jiang, Tingting Li, Sijie Liu, Qihua Fu, Fen Li, Sun Chen, Kun Sun, Rang Xu, Yuejuan Xu
A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan
Jui-Hui Peng, Hung-Pin Tu, Chien-Hui Hong
Social and medical needs of rare metabolic patients: results from a MetabERN survey
Sylvia Sestini, Laura Paneghetti, Christina Lampe, Gianni Betti, Simon Bond, Cinzia Maria Bellettato, Scarpa Maurizio
Growth hormone treatment for adults with Prader-Willi syndrome: another point of view
Harry J. Hirsch, Varda Gross-Tsur
Retrospective study on growth in infants with isolated Robin sequence treated with the Tuebingen Palate Plate
Cornelia Wiechers, Regina Iffländer, Rieke Gerdes, Melissa Ciuffolotti, Jörg Arand, Christina Weise, Katharina Peters, Bärbel Grandke, Siegmar Reinert, Bernd Koos, Christian F. Poets
Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening
Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng, Dongmei Chen
Endophenotypical drift in Huntington’s disease: a 5-year follow-up study
Marie N. N. Hellem, Rebecca K. Hendel, Tua Vinther-Jensen, Ida U. Larsen, Troels T. Nielsen, Lena E. Hjermind, Esben Budtz-Jørgensen, Asmus Vogel, Jørgen E. Nielsen
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch
Epidemiological investigation of hemophagocytic lymphohistiocytosis in China
Shuyan Yao, Yini Wang, Yuan Sun, Li Liu, Rui Zhang, Jianpei Fang, Runming Jin, Jie Yu, Fei Li, Jie Bai, Yun Zeng, Cheng Zhang, Huo Tan, Fan Zhou, Yan Chen, Qiaohua Zhang, Zhao Wang
Preventive use of nitisinone in alkaptonuria
Bruce H. R. Wolffenbuttel, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation
Dian Hong, Ying-Yi Zheng, Ying Xin, Ling Sun, Hang Yang, Min-Yin Lin, Cong Liu, Bo-Ning Li, Zhi-Wei Zhang, Jian Zhuang, Ming-Yang Qian, Shu-Shui Wang
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, Bruno Leheup, Martine Doco-Fenzy, Céline Poirsier, Marta Spodenkiewicz, Lola Lissy, Audrey Lannoy, Elise Shaefer, Salima El Chehadeh, Jeanne Amiel, Cyril Mignot, Judith Melki, Sandra Whalen, Marilyn Irène Lackmy, Benoit Funalot, Gilles Morin, Marion Gérard, Nicolas Gruchy, Arnaud Molin, Annick Toutain, Stéphanie Arpin, Sophie Blesson, Médéric Jeanne, Bertrand Isidor, Marie Vincent, Mathilde Nizon, Sandra Mercier, Dominique Bonneau, Estelle Colin, Alban Ziegler, Séverine Audebert-Bellanger, Radka Stoeva, Florence Demurger, Julien Thevenon, Christine Francannet, Baptiste Troude, Isabelle Perthus, Damien Haye, Patrick Collignon, Brigitte Gilbert-Dussardier, Frédéric Bilan, Mattieu Egloff, Gwenaël Le Guyader, Pascaline Letard, Elisabeth Sarrazin, Anna-Gaëlle Giguet-Valard, Léna Damaj, Mélanie Fradin, Alinoe Lavillaureix, Nolwenn Jean-Marçais, Godelieve Morel, Chloé Quelin, Sophie Naudion, Marine Legendre, Julien Van-Gils, Caroline Rooryck-Thambo, Odile Boute, Anne Dieux, Catherine Vincent-Delorme, Jamal Ghoumid, Clémence Vanlerberghe, Roseline Caumes, Cindy Colson, Luisa Marsili, Antoine Wyrebski, Laurence Bellengier, Françoise Houdayer, Audrey Putoux, Tiffany Busa, Florence Riccardi, Chantal Missirian, Patricia Blanchet, Christine Coubes, Emmanuelle Haquet, Lucile Pinson, Jacques Puechberty, Constance Wells, Yline Capri, Laurence Perrin, Sandrine Passemard, Lyse Ruand, Sophie Nambot, Julian Delanne, Sébastien Moutton, Arthur Sorlin, Daphné Lehalle, Aurore Garde, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, Alain Verloes, Laurence Faivre
Estimating the broader fiscal consequences of acute hepatic porphyria (AHP) with recurrent attacks in Belgium using a public economic analytic framework
Mark P. Connolly, Nikos Kotsopoulos, Sebastian Vermeersch, Julien Patris, David Cassiman
Increased levels of serum interleukin-10 are associated with poor outcome in adult hemophagocytic lymphohistiocytosis patients
Yulan Zhou, Fancong Kong, Shixuan Wang, Min Yu, Yawen Xu, Jing Kang, Songtao Tu, Fei Li
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Chien-Yu Hsueh, Chii-Yuan Huang, Chia-Feng Yang, Chia-Chen Chang, Wei-Sheng Lin, Hsiu-Lien Cheng, Shang-Liang Wu, Yen-Fu Cheng, Dau-Ming Niu
Auditory cortex hypoperfusion: a metabolic hallmark in Beta Thalassemia
Renzo Manara, Sara Ponticorvo, Silverio Perrotta, Maria Rosaria Barillari, Giuseppe Costa, Davide Brotto, Rosanna Di Concilio, Angela Ciancio, Elisa De Michele, Pasquale Alessandro Carafa, Antonietta Canna, Andrea Gerardo Russo, Donato Troisi, Martina Caiazza, Federica Ammendola, Domenico Roberti, Claudia Santoro, Stefania Picariello, Maria Sole Valentino, Emanuela Inserra, Roberta Carfora, Mario Cirillo, Simona Raimo, Gabriella Santangelo, Francesco di Salle, Fabrizio Esposito, Immacolata Tartaglione
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization
Robert J. Pignolo, Edward C. Hsiao, Genevieve Baujat, David Lapidus, Adam Sherman, Frederick S. Kaplan
A qualitative study of the impacts of having an infant or young child with achondroplasia on parent well-being
Kathryn M. Pfeiffer, Meryl Brod, Alden Smith, Dorthe Viuff, Sho Ota, R. Will Charlton
Health care transition for patients with vascular malformations: a French multicenter cross-sectional study
Camille Vermersch, Olivia Boccara, Christine Chiaverini, Juliette Mazereeuw-Hautier, Nina Sigg, Stéphanie Mallet, Pierre Vabres, Denis Herbreteau, Anne Le Touze, Annabel Maruani, Sophie Leducq
Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study
Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico
Osteomyelitis variolosa, an issue inherited from the past: case report and systematic review
Jinshuo Tang, Pu Shao, Te Liu, Xinggui Wen, Yeliang Wang, Chenyu Wang, Yachen Peng, Hua Yao, Jianlin Zuo
Clinical course of neurogenic bladder dysfunction in human T-cell leukemia virus type-1-associated myelopathy/tropical spastic paraparesis: a nationwide registry study in Japan
Naoki Iijima, Junji Yamauchi, Naoko Yagishita, Natsumi Araya, Satoko Aratani, Kenichiro Tanabe, Tomoo Sato, Ayako Takata, Yoshihisa Yamano
A rare disease patient-reported outcome measure: revision and validation of the German version of the Systemic Sclerosis Quality of Life Questionnaire (SScQoL) using the Rasch model
Agnes Kocher, Mwidimi Ndosi, Kris Denhaerynck, Michael Simon, Andrew A. Dwyer, Oliver Distler, Kirsten Hoeper, Patrizia Künzler-Heule, Anthony C. Redmond, Peter M. Villiger, Ulrich A. Walker, Dunja Nicca
The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital
Nimish Mittal, Daniel Santa Mina, Laura McGillis, Aliza Weinrib, P. Maxwell Slepian, Maxim Rachinsky, Stephanie Buryk-Iggers, Camille Laflamme, Laura Lopez-Hernandez, Laura Hussey, Joel Katz, Lianne McLean, Dmitry Rozenberg, Louis Liu, Yvonne Tse, Colleen Parker, Arnon Adler, George Charames, Robert Bleakney, Christian Veillette, Christopher J. Nielson, Sandra Tavares, Stephanie Varriano, Juan Guzman, Hanna Faghfoury, Hance Clarke
Economic burden and health related quality of life of ultra-rare Gaucher disease in China
Xinye Qi, Jiao Xu, Linghan Shan, Ye Li, Yu Cui, Huan Liu, Kexin Wang, Lijun Gao, Zheng Kang, Qunhong Wu
Mannose supplementation in PMM2-CDG
Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Icaro França Navarro Pinto, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina dos Santos Jorge, Emília Correia Souto, Paulo de Lima Serrano, Roberta Ismael Lacerda Machado, Marco Antônio Troccoli Chieia, Enrico Bertini, Acary Souza Bulle Oliveira
Hospital mortality in patients with rare diseases during pandemics: lessons learnt from the COVID-19 and SARS pandemics
Claudia Ching Yan Chung, Wilfred Hing Sang Wong, Brian Hon Yin Chung
Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis
Federica Pondrelli, Lorenzo Muccioli, Laura Licchetta, Barbara Mostacci, Corrado Zenesini, Paolo Tinuper, Luca Vignatelli, Francesca Bisulli
Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers
Mattea Reinisch, Sherko Kuemmel, Elisabeth Breit, Ingo Theuerkauf, Hakima Harrach, Dorothea Schindowski, Detlef Moka, Marcus Bettstetter, Simona Bruzas, Ouafaa Chiari
Quality of life of transplanted children and their parents: a cross-sectional study
Pauline Duvant, Magali Fillat, Florentine Garaix, Bertrand Roquelaure, Caroline Ovaert, Virginie Fouilloux, Michel Tsimaratos, Pascal Auquier, Alexandre Fabre, Karine Baumstarck
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Ada Hamosh, Nara Sobreira
A comparison of two studies and the prevalence and sex ratio of Neurodevelopmental conditions in Tuberous Sclerosis Complex
Abigail K. Runicles, Charlotte Tye, Patrick F. Bolton
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann, Martina Huemer
Clinical features of gastric duplications: evidence from primary case reports and published data
Yang Li, Chen Li, Hao Wu, Quan Wang, Zhi-Dong Gao, Xiao-Dong Yang, Ke-Wei Jiang, Ying-Jiang Ye
Patients with neuromyelitis optica spectrum disorder (NMOSD) are associated with adverse outcome after total hip arthroplasty: a matched case–control study
Xi Chen, Wenwei Qian, Guixing Qiu, Xisheng Weng, Jin Lin, Jin Jin, Shibai Zhu, Yiou Wang, Shanni Li
Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Bingqing Yu, Yinjie Gao, Jiangfeng Mao, Xi Wang, Min Nie, Xueyan Wu
Impact of glycogen storage disease type I on adult daily life: a survey
Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas, Sarah C. Grünert
Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia
Verena Hennig, Wolfgang Schuh, Antje Neubert, Dirk Mielenz, Hans-Martin Jäck, Holm Schneider
Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations
Sarah E. Wetzel-Strong, Shantel Weinsheimer, Jeffrey Nelson, Ludmila Pawlikowska, Dewi Clark, Mark D. Starr, Yingmiao Liu, Helen Kim, Marie E. Faughnan, Andrew B. Nixon, Douglas A. Marchuk
The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy
Tiziana Vaisitti, Daniela Peritore, Paola Magistroni, Andrea Ricci, Letizia Lombardini, Enrico Gringeri, Silvia Catalano, Marco Spada, Marco Sciveres, Angelo Di Giorgio, Giuseppe Limongelli, Marisa Varrenti, Gino Gerosa, Amedeo Terzi, Carlo Pace Napoleone, Antonio Amodeo, Luca Ragni, Luca Dello Strologo, Elisa Benetti, Iris Fontana, Sara Testa, Licia Peruzzi, Adele Mitrotti, Serena Abbate, Giorgia Comai, Eliana Gotti, Marco Schiavon, Massimo Boffini, Daniele De Angelis, Alessandro Bertani, Domenico Pinelli, Massimo Torre, Camilla Poggi, Silvia Deaglio, Massimo Cardillo, Antonio Amoroso, Enrico Gringeri, Silvia Catalano, Marco Spada, Marco Sciveres, Angelo Di Giorgio, Giuseppe Limongelli, Marisa Varrenti, Gino Gerosa, Amedeo Terzi, Carlo Pace Napoleone, Antonio Amodeo, Luca Ragni, Luca Dello Strologo, Elisa Benetti, Iris Fontana, Sara Testa, Licia Peruzzi, Adele Mitrotti, Abbate Serena, Comai Giorgia, Eliana Gotti, Marco Schiavon, Massimo Boffini, Daniele De Angelis, Alessandro Bertani, Domenico Pinelli, Massimo Torre, Camilla Poggi, Silvia Deaglio, Massimo Cardillo, Antonio Amoroso
Growth patterns in children with spinal muscular atrophy
Ramona De Amicis, Giovanni Baranello, Andrea Foppiani, Alessandro Leone, Alberto Battezzati, Giorgio Bedogni, Simone Ravella, Ester Giaquinto, Chiara Mastella, Caterina Agosto, Enrico Bertini, Adele D’Amico, Marina Pedemonte, Claudio Bruno, Jonathan C. Wells, Mary Fewtrell, Simona Bertoli
The de novo FAIRification process of a registry for vascular anomalies
Karlijn H. J. Groenen, Annika Jacobsen, Martijn G. Kersloot, Bruna dos Santos Vieira, Esther van Enckevort, Rajaram Kaliyaperumal, Derk L. Arts, Peter A. C. ‘t Hoen, Ronald Cornet, Marco Roos, Leo Schultze Kool
Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study
Nicholas H. B. Schräder, Emily S. Gorell, Roy E. Stewart, José C. Duipmans, Nicole Harris, Victoria A. Perez, Jean Y. Tang, André P. Wolff, Marieke C. Bolling
Characterization of epidemiological distribution and outcome of COVID-19 in patients with hereditary hemorrhagic telangiectasia: a nationwide retrospective multi-centre study during first wave in Italy
Patrizia Suppressa, Fabio Pagella, Gennaro Mariano Lenato, Eleonora Gaetani, Ilaria Serio, Maristella Salvatora Masala, Giuseppe Spinozzi, Roberta Lizzio, Elina Matti, Annalisa De Silvestri, Giulio Cesare Passali, Maria Aguglia, Claudia Crocione, Carlo Sabbà
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel
Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi, Orna Staretz-Chacham
Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
A. R. Müller, J. R. Zinkstok, N. N. J. Rommelse, P. M. van de Ven, K. C. B. Roes, F. A. Wijburg, E. de Rooij-Askes, C. Linders, E. Boot, A. M. van Eeghen
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey
Laura D’Erasmo, Antonio Gallo, Angelo Baldassare Cefalù, Alessia Di Costanzo, Samir Saheb, Antonina Giammanco, Maurizio Averna, Alessio Buonaiuto, Gabriella Iannuzzo, Giuliana Fortunato, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci, Katia Bonomo, Fabio Nota, Tiziana Sampietro, Francesco Sbrana, Patrizia Suppressa, Carlo Sabbà, Fabio Fimiani, Arturo Cesaro, Paolo Calabrò, Silvia Palmisano, Sergio D’Addato, Livia Pisciotta, Stefano Bertolini, Randa Bittar, Olga Kalmykova, Sophie Béliard, Alain Carrié, Marcello Arca, Eric Bruckert
Functional results after carpal tunnel release in mucopolysaccharidosis
Giana Silveira Giostri, Camila Deneka Arantes Souza, Alencar Kenji Nagai, Mara Lucia Schmitz Ferreira Santos, José Silvany Pacheco Sampaio Neto, Flavia David João de Masi Nassif
Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia
Weihui Yan, Yongtao Xiao, Yunyi Zhang, Yijing Tao, Yi Cao, Kunhui Liu, Wei Cai, Ying Wang
Perceived mental health in parents of children with rare congenital surgical diseases: a double ABCX model considering gender
Johannes Boettcher, Holger Zapf, Mareike Fuerboeter, Rojin Nazarian, Konrad Reinshagen, Silke Wiegand-Grefe, Michael Boettcher
Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study
Mei Yao, Yu Xia, Yijie Feng, Ying Ma, Yi Hong, Yanyi Zhang, Jie Chen, Changzheng Yuan, Shanshan Mao
PACS1-Neurodevelopmental disorder: clinical features and trial readiness
Abigail Van Nuland, Taruna Reddy, Farhad Quassem, Jean-Dominique Vassalli, Anne T. Berg
A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis
Christina van Stein, Sabrina Klank, Marianne Grüneberg, Chris Ottolenghi, Jürgen Grebe, Janine Reunert, Erik Harms, Thorsten Marquardt
Cholbam® and Zellweger spectrum disorders: treatment implementation and management
Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes, Sirish Palle
Norm-based comparison of the quality-of-life impact of ravulizumab and eculizumab in paroxysmal nocturnal hemoglobinuria
Carolyn E. Schwartz, Roland B. Stark, Katrina Borowiec, Sandra Nolte, Karl-Johan Myren
Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia
K. P. Thompson, J. Nelson, H. Kim, S. M. Weinsheimer, D. A. Marchuk, M. T. Lawton, T. Krings, M. E. Faughnan, Murali Chakinala, Marianne S. Clancy, Marie E. Faughnan, James R. Gossage, Steven W. Hetts, Vivek Iyer, Raj S. Kasthuri, Helen Kim, Timo Krings, Michael T. Lawton, Doris Lin, Hans-Jurgen Mager, Douglas A. Marchuk, Justin P. McWilliams, Jamie McDonald, Ludmilla Pawlikowska, Jeffrey Pollak, Felix Ratjen, Karen Swanson, Dilini Vethanayagam, Shantel Weinsheimer, Andrew J. White, Pearce Wilcox
Potential markers for sample size estimations in hereditary spastic paraplegia type 5
Qianqian Lin, Ying Liu, Zhixian Ye, Jianping Hu, Wenjie Cai, Qiang Weng, Wan-Jin Chen, Ning Wang, Dairong Cao, Yi Lin, Ying Fu
Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8
Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang, Fan Tong
Physical and mental growth and development in children with congenital hypothyroidism: a case–control study
Javad Nazari, Kimia Jafari, Maryam Chegini, Akram Maleki, Pari MirShafiei, Ali Alimohammadi, Yasan Kazemzadeh, Reihaneh Mikaeliyan, Saeed Amini
Elosulfase alfa in the treatment of mucopolysaccharidosis type IVA: insights from the first managed access agreement
Bob Stevens, Tom Kenny, Sophie Thomas, Alexandra Morrison, James Jarrett, Mohit Jain
Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry
Mareike Tometten, Martin Kirschner, Susanne Isfort, Marie-Luise Berres, Tim H. Brümmendorf, Fabian Beier
Clinical features of lupus enteritis: a single-center retrospective study
Long Chen, Qin He, Man Luo, Yuxiao Gou, Dan Jiang, Xiaoqin Zheng, Gaowu Yan, Fang He
Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen, Saskia B. Wortmann
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China
Liyan Wu, Wei Zhang, Yanmeng Li, Donghu Zhou, Bei Zhang, Anjian Xu, Zhen Wu, Lina Wu, Shuxiang Li, Xiaoming Wang, Xinyan Zhao, Qianyi Wang, Min Li, Yu Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia
HAE patient self-sampling for biomarker establishment
Toni M. Förster, Markus Magerl, Marcus Maurer, Selen Zülbahar, Susanne Zielke, Neil Inhaber, Donatello Crocetta, Arndt Rolfs, Volha Skrahina
Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study
Dariusz Walkowiak, Jan Domaradzki
Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study
Hidetomi Terai, Koji Tamai, Masatoshi Hoshino, Hiromitsu Toyoda, Akinobu Suzuki, Shinji Takahashi, Yusuke Hori, Akito Yabu, Hiroaki Nakamura
Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support
Ayse B. Kolemen, Enes Akyuz, Ali Toprak, Erdem Deveci, Gozde Yesil
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4
Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian, Chanjuan Hao
Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K
Aidan Searle, Georgia Herbert, Lucy Dabner, Colin G. Steward, Michaela Damin, Guido Pieles
Left ventricular myocardial deformation assessment in asymptomatic patients with recently diagnosed sarcoidosis of the respiratory tract and/or extrapulmonary sarcoidosis
Roman Panovský, Martina Doubková, Mary Luz Mojica-Pisciotti, Tomáš Holeček, Jan Máchal, Věra Feitová, Lucia Masárová, Lukáš Opatřil, Vladimír Kincl, Jana Víšková
Physiotherapy for epidermolysis bullosa: clinical practice guidelines
Amy Weisman, Jennifer M. Chan, Chantal LaPointe, Kaye Sjoholm, Kristy Steinau, Kaycie Artus, Suci Widhiati, Rebecca Bodan, Michelle Wood, Julio C. Salas-Alanis, Anna Carolina Rocha, Beata Faitli, Phuong Khuu
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas
Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients
Anna Ambrosini, Danila Baldessari, Silvia Pozzi, Manuela Battaglia, Elena Beltrami, Anna Maria Merico, Marco Rasconi, Lucia Monaco
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry
Panayiotis K. Yiallouros, Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou, Artemios Demetriou, Phivos Ioannou, George A. Tanteles, Constantina Costi, Pavlos Fanis, Milan Macek, Vassos Neocleous, Leonidas A. Phylactou
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
M. A. Siano, V. Marchetti, S. Pagano, F. Di Candia, M. Alessio, D. De Brasi, A. De Luca, V. Pinna, S. Sestito, D. Concolino, M. Tartaglia, P. Strisciuglio, V. D’Esposito, S. Cabaro, G. Perruolo, P. Formisano, D. Melis
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression
David Adams, Vincent Algalarrondo, Michael Polydefkis, Nitasha Sarswat, Michel S. Slama, Jose Nativi-Nicolau
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
Alicia Scocchia, Tiia Kangas-Kontio, Melita Irving, Matti Hero, Inka Saarinen, Liisa Pelttari, Kimberly Gall, Satu Valo, Johanna M. Huusko, Jonna Tallila, Johanna Sistonen, Juha Koskenvuo, Tero-Pekka Alastalo
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni
Development of symptom-focused outcome measures for advanced and indolent systemic mastocytosis: the AdvSM-SAF and ISM-SAF©
Fiona Taylor, Cem Akin, Roger E. Lamoureux, Brad Padilla, Tanya Green, Anthony L. Boral, Iyar Mazar, Brenton Mar, Alan L. Shields, Frank Siebenhaar
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias
Bruno Fattizzo, Juri Alessandro Giannotta, Nicola Cecchi, Wilma Barcellini
One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria
Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak, Chunxiu Gong
Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China
Jing Zhao, Kenneth D. R. Setchell, Ying Gong, Yinghua Sun, Ping Zhang, James E. Heubi, Lingjuan Fang, Yi Lu, Xinbao Xie, Jingyu Gong, Jian-She Wang
Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy
Chang Ho Shin, Chaemoon Lim, Hwa Young Kim, Won Joon Yoo, Tae-Joon Cho, In Ho Choi, Jung Min Ko
Nintedanib in idiopathic and secondary pleuroparenchymal fibroelastosis
Mouhamad Nasser, Salim Si-Mohamed, Ségolène Turquier, Julie Traclet, Kaïs Ahmad, François Philit, Philippe Bonniaud, Lara Chalabreysse, Françoise Thivolet-Béjui, Vincent Cottin
Executive functions and quality of life in children with neurofibromatosis type 1
Arnaud Roy, Jean-Luc Roulin, Christèle Gras-Le Guen, Marie-Laure Corbat, Sébastien Barbarot
Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study
Gemma Marcucci, Paola Altieri, Salvatore Benvenga, Marta Bondanelli, Valentina Camozzi, Filomena Cetani, Luisella Cianferotti, Mirko Duradoni, Caterina Fossi, Ettore degli Uberti, Fausto Famà, Giovanna Mantovani, Claudio Marcocci, Laura Masi, Uberto Pagotto, Andrea Palermo, Simone Parri, Rosaria Maddalena Ruggeri, Maria Chiara Zatelli, Maria Luisa Brandi
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy, Bayan Albdah, Mohamed A. Hussein, Zuhair Rahbeeni, Ali Alasmari
Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study
Yi-Chia Chan, Kai-Min Liu, Chao-Long Chen, Aldwin D. Ong, Chih-Che Lin, Chee-Chien Yong, Pei-Chun Tsai, Liang-Suei Lu, Jer-Yuarn Wu
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations
Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri, Francesca Cumbo, Carmen Campana, Silvia Maria Bernabei, Raffaella Cusmai, Antonella Mosca, Carlo Dionisi-Vici
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini
Clinical and ultrasound characteristics of virilizing ovarian tumors in pre- and postmenopausal patients: a single tertiary center experience
Mi Zou, Rong Chen, Yahong Wang, Yonglan He, Ying Wang, Yifan Dong, Jianchu Li
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Solrun Sigurdardottir, Birgitte Bjerkely, Trond G. Jenssen, Per Mathisen, Charlotte von der Lippe, Kristin Ørstavik, Ketil Heimdal, Dag Olav Dahle, Mina Susanne Weedon-Fekjær, Olga Solberg, Hege K. Pihlstrøm
Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective
Alaa Hamed, Kristina An Haack, Chad Gwaltney, Eileen Baranowski, Andrew Stewart, Robert Krupnick, Margaret Tyler, Susan Sparks, Jean Paty
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems
Ainslie Tisdale, Christine M. Cutillo, Ramaa Nathan, Pierantonio Russo, Bryan Laraway, Melissa Haendel, Douglas Nowak, Cindy Hasche, Chun-Hung Chan, Emily Griese, Hugh Dawkins, Oodaye Shukla, David A. Pearce, Joni L. Rutter, Anne R. Pariser
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis
Giorgia Coratti, Costanza Cutrona, Maria Carmela Pera, Francesca Bovis, Marta Ponzano, Fabrizia Chieppa, Laura Antonaci, Valeria Sansone, Richard Finkel, Marika Pane, Eugenio Mercuri
In-depth phenotyping for clinical stratification of Gaucher disease
Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, T. M. Cox, F. M. Platt, S. Banka, A. Chakrapani, P. B. Deegan, T. Geberhiwot, D. A. Hughes, S. Jones, R. H. Lachmann, S. Santra, R. Sharma, A. Vellodi
Functional mobility in walking adult population with ataxia of Charlevoix-Saguenay
Isabelle Lessard, Raphaël St-Gelais, Luc J. Hébert, Isabelle Côté, Jean Mathieu, Bernard Brais, Cynthia Gagnon
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A
Shahram Attarian, Peter Young, Thomas H. Brannagan, David Adams, Philip Van Damme, Florian P. Thomas, Carlos Casanovas, Jafar Kafaie, Céline Tard, Maggie C. Walter, Yann Péréon, David Walk, Amro Stino, Marianne de Visser, Camiel Verhamme, Anthony Amato, Gregory Carter, Laurent Magy, Jeffrey M. Statland, Kevin Felice
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study
Brad Padilla, Alan L. Shields, Fiona Taylor, Xiaoran Li, Jeffrey Mcdonald, Tanya Green, Anthony L. Boral, Hui-Min Lin, Cem Akin, Frank Siebenhaar, Brenton Mar
Eat, breathe, sleep with Osteogenesis Imperfecta
Antonella LoMauro, Carlo Vittorio Landoni, Paolo Fraschini, Franco Molteni, Andrea Aliverti, Simona Bertoli, Ramona De Amicis
Being a caregiver of a Behçet’s syndrome patient: challenges and perspectives during a complex journey
Rosaria Talarico, Diana Marinello, Arianna Manzo, Sara Cannizzo, Ilaria Palla, Simone Ticciati, Andrea Gaglioti, Leopoldo Trieste, Lorenzo Pisa, Luciano Badalamenti, Girolamo Randisi, Alessandra Del Bianco, Valentina Lorenzoni, Giuseppe Turchetti, Marta Mosca
The patient experience of Wilson disease: a conceptual model based on qualitative research
Stella Karantzoulis, Karli Heuer, Nicole Sparling, Megan Teynor
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series
Aslı İnci, İlyas Okur, Leyla Tümer, Gürsel Biberoğlu, Murat Öktem, Fatih Ezgü
Variables affecting pricing of orphan drugs: the Italian case
Claudio Jommi, Elisabetta Listorti, Federico Villa, Simone Ghislandi, Armando Genazzani, Agnese Cangini, Francesco Trotta
A multicenter study on quality of life of the “greater patient” in congenital ichthyoses
Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Carmelo Schepis, Iria Neri, Daniele Castiglia, Giovanna Zambruno, May El Hachem
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
Afshin Saffari, Claire Cannet, Astrid Blaschek, Andreas Hahn, Georg F. Hoffmann, Jessika Johannsen, Romy Kirsten, Musa Kockaya, Stefan Kölker, Wolfgang Müller-Felber, Andreas Roos, Hartmut Schäfer, Ulrike Schara, Manfred Spraul, Friedrich K. Trefz, Katharina Vill, Wolfgang Wick, Markus Weiler, Jürgen G. Okun, Andreas Ziegler
Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients
Béatrice Thouvenin, Véronique Soupre, Marie-Anne Caillaud, Charlotte Henry-Mestelan, Christel Chalouhi, Bachar Houssamo, Cécile Chapuis, Katia Lind, Aurélie Royer, Nancy Vegas, Jeanne Amiel, Gérard Couly, Arnaud Picard, Laurence Vaivre-Douret, Véronique Abadie
Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma
Shoko Onodera, Nana Morita, Yuriko Nakamura, Shinichi Takahashi, Kazuhiko Hashimoto, Takeshi Nomura, Akira Katakura, Kenjiro Kosaki, Toshifumi Azuma
New insight into the features of Behçet’s disease with gastrointestinal ulcer: a cross-sectional observational study
Jing-Fen Ye, Cheng-Cheng Hou, Hua-Fang Bao, Jian-Long Guan
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities
Dorian M. Cheff, Alysson R. Muotri, Brent R. Stockwell, Edward E. Schmidt, Qitao Ran, Reena V. Kartha, Simon C. Johnson, Plavi Mittal, Elias S. J. Arnér, Kristen M. Wigby, Matthew D. Hall, Sanath Kumar Ramesh
Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)
Petrus J. de Vries, Loren Leclezio, Sugnet Gardner-Lubbe, Darcy Krueger, Mustafa Sahin, Steven Sparagana, Liesbeth De Waele, Anna Jansen
Hearing problems in patients with hereditary gelsolin amyloidosis
Tuuli Mustonen, Ville Sivonen, Sari Atula, Sari Kiuru-Enari, Saku T. Sinkkonen
Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review
Dagmar K. Tiemens, Jacqueline Nugteren, Erika Leenders, Ellen Wingbermühle, Carina A. C. M. Pittens, Jos M. Th. Draaisma
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian
Correction to: Potential markers for sample size estimations in hereditary spastic paraplegia type 5
Qianqian Lin, Ying Liu, Zhixian Ye, Jianping Hu, Wenjie Cai, Qiang Weng, Wan-Jin Chen, Ning Wang, Dairong Cao, Yi Lin, Ying Fu
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
Tobias Schmidt, Constantin Schmidt, Michael Amling, Jan Kramer, Florian Barvencik
The role of estrogen deprivation therapy in premenopausal women with primary unresectable intracardiac leiomyomatosis: a systematic review and meta-analysis
Jinxiao Liang, Ruilin Lei, Mingwei Xie, Shaodan Lin, Jing Xu, Xiaoting Ling, Qingsheng Xie
RaDiCo, the French national research program on rare disease cohorts
Serge Amselem, Sonia Gueguen, Jérôme Weinbach, Annick Clement, Paul Landais
Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell–Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report
Valeria Calcaterra, Luigi Chiricosta, Emanuela Mazzon, Agnese Gugnandolo, Daniele Alberti, Luciano Maestri, Milena Meroni, Elettra Vestri, Elvira Verduci, Dario Dilillo, Gianvincenzo Zuccotti, Gloria Pelizzo
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)
Joseph Muenzer, Jaco Botha, Paul Harmatz, Roberto Giugliani, Christoph Kampmann, Barbara K. Burton
Development of the Myasthenia Gravis (MG) Symptoms PRO: a case study of a patient-centred outcome measure in rare disease
Sophie Cleanthous, Ann-Christin Mork, Antoine Regnault, Stefan Cano, Henry J. Kaminski, Thomas Morel
High rate of autonomic neuropathy in Cornelia de Lange Syndrome
M. J. Pablo, P. Pamplona, M. Haddad, I. Benavente, A. Latorre-Pellicer, M. Arnedo, L. Trujillano, G. Bueno-Lozano, L. M. Kerr, S. A. Huisman, F. J. Kaiser, F. Ramos, A. D. Kline, J. Pie, B. Puisac
Correction to: Clinical features and treatment efficacy for IgG4-related thyroiditis
Xinxin Han, Panpan Zhang, Jieqiong Li, Zheng Liu, Hui Lu, Xuan Luo, Boju Pan, Xiaolan Lian, Xuejun Zeng, Wen Zhang, Xiaofeng Zeng
A systematic literature review of frequency of vaso-occlusive crises in sickle cell disease
Ahmar U. Zaidi, Alexander K. Glaros, Soyon Lee, Taiji Wang, Rhea Bhojwani, Eric Morris, Breanne Donohue, Jincy Paulose, Şerban R. Iorga, Dave Nellesen
Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients
Elham Alehabib, Zahra Esmaeilizadeh, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Hossein Darvish, Abolfazl Movafagh
Alterations in brain morphology by MRI in adults with neurofibromatosis 1
Su Wang, Victor-Felix Mautner, Ralph Buchert, Stephane Flibotte, Per Suppa, Jan M. Friedman, Manraj K. S. Heran
Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions
Muhammad Kassim Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, Ingunn Westerheim, Inês Alves, Rebecca Tvedt Skarberg, Natasha M. Appelman-Dijkstra, Corinna Grasemann
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo
GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
Bindu Parayil Sankaran, Sachin Gupta, Michel Tchan, Beena Devanapalli, Yusof Rahman, Peter Procopis, Kaustuv Bhattacharya
Reduced risk of recurrent pneumothorax for sirolimus therapy after surgical pleural covering of entire lung in lymphangioleiomyomatosis
Teiko Sakurai, Toru Arai, Masaki Hirose, Kensuke Kojima, Tetsuki Sakamoto, Yoshinobu Matsuda, Chikatoshi Sugimoto, Hyung-Eun Yoon, Yoshikazu Inoue
Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
Wei Zhang, Yan-Mei Sang
Hearing loss in Norwegian adults with achondroplasia
Svein O. Fredwall, Björn Åberg, Hanne Berdal, Ravi Savarirayan, Jorunn Solheim
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille, Carine Courtillot, GianPaolo de Filippo, Jean-Claude Carel, Sophie Christin-Maitre, Philippe Touraine, Irene Netchine, Michel Polak, Juliane Léger
The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease
Cinzia Bettio, Valentina Salsi, Mirko Orsini, Enrico Calanchi, Luca Magnotta, Luca Gagliardelli, June Kinoshita, Sonia Bergamaschi, Rossella Tupler
Co-existing of craniofacial fibrous dysplasia and cerebrovascular diseases: a series of 22 cases and review of the literature
Xiaowen Song, Zhi Li
Williams syndrome: on the role of intellectual abilities in anxiety
Charlotte Willfors, Deborah M. Riby, Marcus van der Poll, Katja Ekholm, Hanna Avdic Björlin, Johan Lundin Kleberg, Ann Nordgren
Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial
Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Birgit Tockner, Victoria Reichl, Alfred Klausegger, Peter Hofbauer, Martin Wolkersdorfer, Khek-Chian Tham, Seong Soo Lim, John E. Common, Anja Diem, Katharina Ude-Schoder, Wolfgang Hitzl, Florian Lagler, Julia Reichelt, Johann W. Bauer, Roland Lang, Martin Laimer
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
Daniela Choukair, Fabian Hauck, Markus Bettendorf, Heiko Krude, Christoph Klein, Tobias Bäumer, Reinhard Berner, Min Ae Lee-Kirsch, Corinna Grasemann, Peter Burgard, Georg F. Hoffmann
Improving phenylalanine and micronutrients status of children with phenylketonuria: a pilot randomized study
Reza Zamani, Akram Karimi-Shahanjarini, Leili Tapak, Babak Moeini
Italian national consensus statement on management and pharmacological treatment of phenylketonuria
Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy
Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo
Predictors of heart failure symptoms in hereditary hemorrhagic telangiectasia patients with hepatic arteriovenous malformations
Lucas R. Cusumano, Joseph A. Tesoriero, Craig B. Wilsen, James Sayre, Matthew Quirk, Justin P. McWilliams
Extranodal natural killer/T-cell lymphoma of the breast: a retrospective clinicopathological analysis of a consecutive 11-year case series
Wei Liu, Zihang Chen, Fanglan Li, Wenyan Zhang, Weiping Liu, Sha Zhao
Identification and treatment of primary cervical gestational trophoblastic neoplasia: a retrospective study of 13 patients and literature review
Xiaoyu Wang, Junjun Yang, Xirun Wan, Fengzhi Feng, Jun Zhao, Tong Ren, Yang Xiang
NeoSeq: a new method of genomic sequencing for newborn screening
Huaiyan Wang, Yuqi Yang, Lingna Zhou, Yu Wang, Wei Long, Bin Yu
International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study
William Evans, Marc Patterson, Frances Platt, Christina Guldberg, Toni Mathieson, Jessica Pacey, Elizabeth Berry-Kravis, Nicole Farhat, Jordi Gascon, Tarek Geberhiwot, Paul Gissen, Roberto Giugliani, Caroline Hastings, Bénédicte Héron, Jackie Imrie, Simon Jones, Robin Lachmann, Eugen Mengel, Marc Patterson, Mercedes Pineda, Denny Porter, Heiko Runz, Miriam Stampfer, Michael Strupp, Mark Walterfang
Scientific evidence based rare disease research discovery with research funding data in knowledge graph
Qian Zhu, Ðắc-Trung Nguyễn, Timothy Sheils, Gioconda Alyea, Eric Sid, Yanji Xu, James Dickens, Ewy A. Mathé, Anne Pariser
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy
Elodie Mareux, Martine Lapalus, Amel Ben-Saad, Isabelle Callebaut, Thomas Falguières, Emmanuel Gonzales, Emmanuel Jacquemin
Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease
Yevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, Charlotte Aries, Nicole Muschol, Simon Dulz
Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies
P. Pérez-Núñez, E. Lázaro, I. Amayra, J. F. López-Paz, P. Caballero, O. Martínez, M. Pérez, S. Berrocoso, M. Al-Rashaida, M. García, A. A. Rodríguez, P. M. Luna
Measuring Duchenne muscular dystrophy impact: development of a proxy-reported measure derived from PROMIS item banks
Carolyn E. Schwartz, Roland B. Stark, David Cella, Katrina Borowiec, Katherine L. Gooch, Ivana F. Audhya
The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein–Taybi syndromes
Katherine Ellis, Jo Moss, Chrysi Stefanidou, Chris Oliver, Ian Apperly
Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study
Anne Munk Henning, Mette Møller Handrup, Sia Mariann Kjeldsen, Dorte Ancher Larsen, Cecilie Ejerskov
Is the combination of bilateral pulmonary nodules and mosaic attenuation on chest CT specific for DIPNECH?
Bilal F. Samhouri, Chi Wan Koo, Eunhee S. Yi, Jay H. Ryu
Randomized and non-randomized designs for causal inference with longitudinal data in rare disorders
Rima Izem, Robert McCarter
Clinics and genetic background of hereditary gingival fibromatosis
Karolina Strzelec, Agata Dziedzic, Katarzyna Łazarz-Bartyzel, Aleksander M. Grabiec, Ewa Gutmajster, Tomasz Kaczmarzyk, Paweł Plakwicz, Katarzyna Gawron
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe, Claire Burbridge
Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE
D. Druschke, F. Krause, G. Müller, J. Scharfe, G. F. Hoffmann, J. Schmitt
Development and content validation of a symptom assessment for eosinophilic gastritis and eosinophilic gastroenteritis in adults and adolescents
Calvin N. Ho, Sean O’Quinn, Julie Bailey, Oren Meyers, Ashley F. Slagle, Evan S. Dellon, Catherine Datto
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation
Yubi Lin, Jiana Huang, Zhiling Zhu, Zuoquan Zhang, Jianzhong Xian, Zhe Yang, Tingfeng Qin, Linxi Chen, Jingmin Huang, Yin Huang, Qiaoyun Wu, Zhenyu Hu, Xiufang Lin, Geyang Xu
Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany
Stefanie Witt, Kaja Kristensen, Silke Wiegand-Grefe, Johannes Boettcher, Janika Bloemeke, Christina Wingartz, Monika Bullinger, Julia Quitmann
Quality of life and mental health of children with rare congenital surgical diseases and their parents during the COVID-19 pandemic
Mareike Fuerboeter, Johannes Boettcher, Claus Barkmann, Holger Zapf, Rojin Nazarian, Silke Wiegand-Grefe, Konrad Reinshagen, Michael Boettcher
RASopathies and hemostatic abnormalities: key role of platelet dysfunction
Francesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, Alessandro Di Minno, Carmen Rosano, Stefano Pagano, Maria Anna Siano, Mariateresa Falco, Antonia Assunto, Giovanni Boccia, Gerardo Magliacane, Valentina Pinna, Alessandro De Luca, Marco Tartaglia, Giovanni Di Minno, Pietro Strisciuglio, Daniela Melis
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients
Beth Leiro, Dawn Phillips, Melanie Duiker, Paul Harmatz, Sharon Charles
Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II
Karen S. Yee, Yanyu Wu, Magdalena Harrington, Susan E. Waisbren
Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan
Rieko Sagara, Masahide Ishigaki, Manami Otsuka, Kei Murayama, Hiroyuki Ida, Jovelle Fernandez
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau, Denis Wahl, Patricia Fergelot, Cyril Goizet, Tristan Mirault, Xavier Jeunemaitre, Juliette Albuisson, Anne Dieux, Fabien Labombarda, Sylvain Rheims, Odile Boute, André Vincentelli, Annick Toutain, Sylvie Odent, Gaetan Lesca, Marie Vincent, Juliette Piard, Maud Favier, Philippe Derambure, Patrick Edery, Susanne Thummler, Marion Gérard, Fanny Morice-Picard, Valérie Layet, Cécile Laroche, Laurent Pasquier, Elisabeth Sarrazin, Thierry Billette de Villemeur, Lucie Guyant-Marechal
Correction to: Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8
Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang, Fan Tong
Correction to: Physical and mental growth and development in children with congenital hypothyroidism: a case–control study
Javad Nazari, Kimia Jafari, Maryam Chegini, Akram Maleki, Pari MirShafei, Ali Alimohammadi, Yasan Kazemzadeh, Reihaneh Mikaeliyan, Saeed Amini
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier
Leukocyte telomere length and amyotrophic lateral sclerosis: a Mendelian randomization study
Kailin Xia, Linjing Zhang, Gan Zhang, Yajun Wang, Tao Huang, Dongsheng Fan
Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children’s Hospital in China
Qian Shen, Jialu Liu, Jing Chen, Shuizheng Zhou, Yi Wang, Lifei Yu, Li Sun, Liuhui Wang, Bingbing Wu, Fang Liu, Yun Cao, Ying Huang, Jianshe Wang, Chenhao Yang, Daqian Zhu, Yangyang Ma, Zhengmin Xu, Wei Lu, Lili Fu, Wenhao Zhou, Hong Xu
Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium
Mattias Rudebeck, Ciarán Scott, Nicholas P. Rhodes, Christa van Kan, Birgitta Olsson, Mohammed Al-sbou, Anthony K. Hall, Nicolas Sireau, Lakshminarayan R. Ranganath
Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia
Alexandre Guilhem, Pierre Portalès, Sophie Dupuis-Girod, Sophie Rivière, Thierry Vincent
On the outside looking in: a phenomenological study of the lived experience of Australian adults with a disorder of the corpus callosum
Maree Maxfield, Monica S. Cooper, Anne Kavanagh, Alexandra Devine, Liz Gill Atkinson
Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections
Guoyan Zhu, Mingyao Luo, Qianlong Chen, Yinhui Zhang, Kun Zhao, Yujing Zhang, Chang Shu, Hang Yang, Zhou Zhou
Genetic testing and diagnosis of inherited retinal diseases
Byron L. Lam, Bart P. Leroy, Graeme Black, Tuyen Ong, Dan Yoon, Karmen Trzupek
National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses
Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian, Ye Jin, Rachel Yang, Weihong Gu, Shuyang Zhang
Current status of newborn screening for Pompe disease in Japan
Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose, Kimitoshi Nakamura
Effects of socio-economic factors on research over systemic sclerosis: an analysis based on long time series of bibliometric data
Wei Guo, Zeyu Zhou, Yinhe Liang, Chuanhui Xu, Lin Zeng, Zhiyong Dong, Rong Mu
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithm
John L. Jefferies, Alison K. Spencer, Heather A. Lau, Matthew W. Nelson, Joseph D. Giuliano, Joseph W. Zabinski, Costas Boussios, Gary Curhan, Richard E. Gliklich, David G. Warnock
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong, Duangrurdee Wattanasirichaigoon
Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre
George Altman, Kamran Hussain, Diane Green, Boyd J. G. Strauss, Gisela Wilcox
Clinical, humanistic, and economic burden of severe haemophilia B in adults receiving factor IX prophylaxis: findings from the CHESS II real-world burden of illness study in Europe
Tom Burke, Sohaib Asghar, Jamie O’Hara, Margaret Chuang, Eileen K. Sawyer, Nanxin Li
Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US
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