Ausgabe 1/2024
Inhalt (177 Artikel)
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis
Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yuming Xu
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia
Jekaterina Malina, Eva-Maria Huessler, Karl-Heinz Jöckel, Eva Boog-Whiteside, Nicole Jeschonneck, Bernadette Schröder, Rebecca Schüle, Tobias Kühl, Stephan Klebe
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex
Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield, Jennifer Glass
Implementation status of pharmacological studies in the development of orphan drugs
Saki Yokoshiki, Teruyo Arato
Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings
Ting-Yu Su, Yu-chi Huang, Jih-Yang Ko, Yi-Jung Hsin, Min-Yuan Yu, Pi-Lien Hung
Evaluation of seegene anyplex MTB/NTM real-time detection assay for diagnosis of tuberculous meningitis
Verajit Chotmongkol, Seththawut Kosallavat, Kittisak Sawanyawisuth, Sittichai Khamsai, Narongrit Kasemsap, Nisa Vorasoot, Kannikar Kongbunkiat, Somsak Tiamkao, Prajuab Chaimanee
Hyperthermic intraperitoneal chemotherapy in patients with incomplete cytoreduction for appendiceal pseudomyxoma peritonei: a 10-year treatment experience in China
Bing Wang, Ruiqing Ma, Guanjun Shi, Xiwen Fan, Benqiang Rao, Hongbin Xu
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts
Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr, Erik D. Foehr
Impact of lipodystrophy on health-related quality of life: the QuaLip study
Tevfik Demir, Ilgin Yildirim Simsir, Ozlem Kuman Tuncel, Burcu Ozbaran, Ilker Yildirim, Sebnem Pirildar, Samim Ozen, Baris Akinci
Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan
Aya Narita, Yuta Koto, Shinichi Noto, Masafumi Okada, Midori Ono, Terumi Baba, Rieko Sagara, Norio Sakai
Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance
Elsa Izquierdo-García, Andrea Lázaro-Cebas, Berta Montero Pastor, Ana Such Díaz, Elena Alba Álvaro-Alonso, Laura López Guerra, Ismael Escobar-Rodríguez
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease
Simona D’Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes, Uma Ramaswami
Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease
Matthias Boentert, Kenneth I. Berger, Jordi Díaz-Manera, Mazen M. Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak, J. Jaime Caro
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, Ronald J. A. Wanders, Francois H. van der Westhuizen
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
Michał Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek
A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients
Hui-Min Lee, Saadet Mercimek-Andrews, Gabriella Horvath, Diana Marchese, Richard E. Poulin III, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei, Wuh-Liang Hwu
Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system
Bryan Sisk, Sunny Lin, Anna M. Kerr
Comparative effectiveness and safety of intravenous methylprednisolone and tacrolimus monotherapy in ocular myasthenia gravis with unsatisfactory prednisone responses: a retrospective study
Kai-Yue Zhang, Wei-Wei Duan, Yue-Bei Luo, Yi Li, Jue Hu, Huan Yang
Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review
Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, María Miguélez, Cristina Cuerda
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey
Marit Schwantje, Sarah C. Grünert, Sabine A. Fuchs
Safety and efficacy of ketorolac continuous infusion for multimodal analgesia of vaso-occlusive crisis in patients with sickle cell disease
Valeria Maria Pinto, Barbara Gianesin, Salvatore Sardo, Filippo Mazzi, Giammarco Baiardi, Sofia Menotti, Fabio Piras, Sabrina Quintino, Giacomo Robello, Francesca Mattioli, Gabriele Finco, Gian Luca Forni, Lucia De Franceschi
Developing a community-led rare disease ELSI research agenda
Courtney Berrios, Macy McBeth, Andrea Bradley-Ewing, Nikolaus Schuetz, Annette Campbell, Zohreh Talebizadeh, Jeremy R. Garrett, Tamara Falicov, Francisco Martinez, Jensen Adams, Jewel Akpan, Kelly L. Baesel-Freund, Urvi Biyala, Emily Cramer, Kimberly Freeman, Terrence Gallagher, Ada Jarrar, Linda Vaughn Jones, Tamorah Lewis, George Long, Nancy Petersen, Kerry K. Prout, Alejandro Rosas, Meghan Strenk, Melissa Wirtz, S. Margaret Wright, Miller Wood, West Wood, Emily A. Hurley
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas
Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study
Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome
Ana Beatriz Sánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castillejo, Raquel Perea Ibañez, Carmen Martínez Sevila, Andrea Sánchez-Mira, Inés Escandell, Luís Gómez, Pere Berbel, José Luis Soto
A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlled trial
Dunja Tutus, Mandy Niemitz, Paul L. Plener, Jörg M. Fegert, Christine Lehmann, Christa Weiss, Christine Knaevelsrud, Lisa Biehl, Miriam Rassenhofer
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project
Céline Angin, Monica Mazzucato, Stefanie Weber, Kurt Kirch, Waed Abdel Khalek, Houda Ali, Sylvie Maiella, Annie Olry, Anne-Sophie Jannot, Ana Rath
Review of published 467 achondroplasia patients: clinical and mutational spectrum
XinZhong Zhang, Shan Jiang, Rui Zhang, Siyi Guo, Qiqi Sheng, Kaili Wang, Yuanyuan Shan, Lin Liao, Jianjun Dong
Coexistence of meningioma and craniofacial fibrous dysplasia: a case series of clinicopathological study and literature review
Xiaowen Song, Zhi Li
Medication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies
Silvia Baldacci, Michele Santoro, Lorena Mezzasalma, Anna Pierini, Alessio Coi
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
Anna Szoszkiewicz, Ewelina Bukowska-Olech, Aleksander Jamsheer
A shock to the (health) system: experiences of adults with rare disorders during the first COVID-19 wave
Kathleen R. Bogart, Annelise Hartinger, Maggie Klaus, Elizabeth Jenkinson
Rett syndrome in Ireland: a demographic study
Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes, Daniela Tropea
Cronkhite‒Canada syndrome as inflammatory hamartomatous polyposis: new evidence from whole transcriptome sequencing of colonic polyps
Shuang Liu, Yunfei Zhi, Runfeng Zhang, Yan You, Wen You, Qiushi Xu, Jingnan Li, Ji Li
Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe, Justin Hopkin
Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-being
Leisha Devisetti
Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study
Renzo Mignani, Claudio Americo, Filippo Aucella, Yuri Battaglia, Vittoria Cianci, Annamaria Sapuppo, Chiara Lanzillo, Fabio Pennacchiotti, Luciano Tartaglia, Giacomo Marchi, Federico Pieruzzi
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni
Accelerating drug development for amyotrophic lateral sclerosis: construction and application of a disease course model using historical placebo group data
Ruifen Cai, Juan Yang, Lijuan Wu, Yixiao Liu, Xinrui Wang, Qingshan Zheng, Lujin Li
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik
Implementation of thyroid eye disease registry in Iran: rationale and research protocol
Shadi Akbarian, Abbas Sheikhtaheri, Farid Khorrami, Hossein Ghahvechian, Nasser Karimi, Mohsen Bahmani Kashkouli
Correction: Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello, Paola Facchin
Quantification of Proteus syndrome-associated lung disease
Christopher A. Ours, Anna Buser, Mia B. Hodges, Marcus Y. Chen, Julie C. Sapp, Bernadette R. Gochuico, Leslie G. Biesecker
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder
Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung, Jacqueline Montes
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf
Real-world evidence for coverage determination of treatments for rare diseases
Victoria W. Dayer, Michael F. Drummond, Omar Dabbous, Mondher Toumi, Peter Neumann, Sean Tunis, Nelson Teich, Shadi Saleh, Ulf Persson, Johann-Matthias Graf von der Schulenburg, Daniel C. Malone, Tay Salimullah, Sean D. Sullivan
Body weight, behaviours of concern, and social contact in adults and adolescents with Prader-Willi syndrome in full-time care services: Findings from pooled international archival data
Brian M. Hughes, Anthony Holland, Norbert Hödebeck-Stuntebeck, Lynn Garrick, Anthony P. Goldstone, Mark Lister, Craig Moore, Marguerite Hughes
The effects of etidronate on brain calcifications in Fahr’s disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial
Birgitta MG Snijders, Gini Mathijssen, Mike JL Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera PM Schepers, Wilko Spiering, Evelien van Valen, Huiberdina L Koek
Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS)
Kaiyang Song, Roshi Shrestha, Heather Delaney, Rohit Vijjhalwar, Alison Turner, Maria Sanchez, Muhammad Kassim Javaid
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study
Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu, Jincai Feng
Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
Davut Pehlivan, Sukru Aras, Daniel G. Glaze, Muharrem Ak, Bernhard Suter, Kathleen J. Motil
Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene
Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk, Zeynep Maraş Özdemir
Risk factors associated with severe adverse events in patients with relapsing polychondritis undergoing flexible bronchoscopy
Shao-Ting Wang, Jinglan Wang, Xiaoxing Gao, Keqi Chen, Kai-Feng Xu, Xinlun Tian
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity
Carole Faviez, Marc Vincent, Nicolas Garcelon, Olivia Boyer, Bertrand Knebelmann, Laurence Heidet, Sophie Saunier, Xiaoyi Chen, Anita Burgun
Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age
Yunyun Liu, Sha Liu, Jianlong Liu, Ting Bai, Xiaosha Jing, Cechuan Deng, Tianyu Xia, Jing Cheng, Lingling Xing, Xiang Wei, Yuan Luo, Quanfang Zhou, Dan Xie, Yueyue Xiong, Ling Liu, Qian Zhu, Hongqian Liu
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2
Hiroki Kondou, Satoshi Nakano, Tadahaya Mizuno, Kazuhiko Bessho, Yasuhiro Hasegawa, Atsuko Nakazawa, Ken Tanikawa, Yoshihiro Azuma, Tatsuya Okamoto, Ayano Inui, Kazuo Imagawa, Mureo Kasahara, Yoh Zen, Mitsuyoshi Suzuki, Hisamitsu Hayashi
Needs of amyloidosis patients and their care providers: design & first results of the AMY-NEEDS research and care program
Sandra Michaela Ihne-Schubert, Teresa Radovic, Saskia Fries, Stefan Frantz, Hermann Einsele, Stefan Störk, Silke Neuderth
Barriers to gene therapy, understanding the concerns people with haemophilia have: an exigency sub-study
Simon Fletcher, Kathryn Jenner, Michael Holland, Kate Khair
European reference network for rare inherited congenital anomalies (ERNICA) evidence based guideline on the management of gastroschisis
Carmen Mesas Burgos, Willemijn Irvine, Alexandre Vivanti, Peter Conner, Egle Machtejeviene, Nina Peters, Joan Sabria, Ana Sanchez Torres, Costanza Tognon, Alberto Sgró, Antti Kouvisalo, Hester Langeveld-Benders, Rony Sfeir, Marc Miserez, Nils Qvist, Ausra Lokosiute-Urboniene, Katrin Zahn, Julia Brendel, Jordi Prat, Simon Eaton, Alexandra Benachi
Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta
Koert Gooijer, Gabriëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus, Anton Franken
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series
Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi
Translating patient needs into medical device development: co-design of a photoprotection visor for Xeroderma Pigmentosum using qualitative interviews
Tanya Graham, Sangeeta Sooriah, Yan-Shing Chang, Shaikh Hashimdeen, Turgut Meydan, Patricia Grocott
Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review
Yannick Moutapam-Ngamby—Adriaansen, François Maillot, François Labarthe, Bertrand Lioger
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista
Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia
Nigel S. Michki, Benjamin D. Singer, Javier V. Perez, Aaron J. Thomas, Valerie Natale, Kathryn A. Helmin, Jennifer Wright, Leon Cheng, Lisa R. Young, Howard M. Lederman, Sharon A. McGrath-Morrow
Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
Antonia Modelhart, Dominique Sturz, Lydia Kremslehner, Barbara Prainsack
Psychotic illness in people with Prader–Willi syndrome: a systematic review of clinical presentation, course and phenomenology
Lucie C. S. Aman, Suzannah D. Lester, Anthony J. Holland, Paul C. Fletcher
Rare neurodevelopmental conditions and parents’ mental health – how and when does genetic diagnosis matter?
Zhaotian Chi, Rory T. Devine, Jeanne Wolstencroft, David Skuse, Claire Hughes, Kate Baker
Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data
Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani, Gabriel Chodick
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis
Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo, Wei Zhang
Epidemiology and economic burden of Von Hippel-Lindau Disease-associated central nervous system hemangioblastomas and pancreatic neuroendocrine tumors in the United States
Eric Jonasch, Yan Song, Jonathan Freimark, Richard Berman, Ha Nguyen, James Signorovitch, Murali Sundaram
Incidence and medical costs of lupus in Spanish hospitals: a retrospective database analysis
Josep Darba, Meritxell Ascanio, Ainoa Agüera
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao, Wenjuan Qiu
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
Maria Grazia Cattinari, Mencía de Lemus, Eduardo Tizzano
Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey
Jennifer Jones, Marie Cruddas, Amy Simpson, Nick Meade, Daphnee Pushparajah, Michelle Peter, Amy Hunter
Phenylketonuria from the perspectives of patients in Türkiye
Merve Esgi, Hakan Ergun, Nazmi Yalcin Kaya, Deniz Yilmaz Atakay, Ege Erucar, Fatma Celik
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects
Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler
A systematic review on the birth prevalence of metachromatic leukodystrophy
Shun-Chiao Chang, Aurore Bergamasco, Mélanie Bonnin, Teigna Arredondo Bisonó, Yola Moride
The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review
Sara Cannizzo, Vinciane Quoidbach, Paola Giunti, Wolfgang Oertel, Gregory Pastores, Maja Relja, Giuseppe Turchetti
Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review
Ilaria Ferrarotti, Marion Wencker, Joanna Chorostowska-Wynimko
The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome
Elisabeth M. Dykens, Elizabeth Roof, Hailee Hunt-Hawkins
Hyperphagia and impulsivity: use of self-administered Dykens’ and in-house impulsivity questionnaires to characterize eating behaviors in children with severe and early-onset obesity
Lara Arnouk, Hélène Chantereau, Sophie Courbage, Patrick Tounian, Karine Clément, Christine Poitou, Béatrice Dubern
Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1
Ana M. Cieza Rivera, Carlos Lobato Fuertes, Tania Fernández-Villa, Vicente Martín Sánchez, Isis Atallah
Analysis of the first ten years of FDA’s rare pediatric disease priority review voucher program: designations, diseases, and drug development
Catherine Mease, Kathleen L. Miller, Lewis J. Fermaglich, Jeanine Best, Gumei Liu, Erika Torjusen
The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland
Sophie Thomas, Alexandra Morrison, Georgina Morton, Pat Roberts, Vivienne Clark, Jackie Imrie
Clinical efficacy of metformin in familial adenomatous polyposis and the effect of intestinal flora
Linxin Zhou, Linfu Zheng, Binbin Xu, Zhou Ye, Dazhou Li, Wen Wang
Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
S. Amin, B. Ruban-Fell, I. Newell, J. Evans, K. Vyas, C. Nortvedt, R. F. Chin
Updates on the role of epigenetics in familial mediterranean fever (FMF)
Ahlam Chaaban, Zeina Salman, Louna Karam, Philippe Hussein Kobeissy, José-Noel Ibrahim
Trends in orphan medicinal products approvals in the European Union between 2010–2022
Luísa Bouwman, Bruno Sepodes, Hubert Leufkens, Carla Torre
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg, Ronen Spiegel
Cost-of-illness studies of inherited retinal diseases: a systematic review
Qin Xiang Ng, Clarence Ong, Clyve Yu Leon Yaow, Hwei Wuen Chan, Julian Thumboo, Yi Wang, Gerald Choon Huat Koh
Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone, Antonella Lo Mauro
Pragmatic skills in people with Williams syndrome: the perception of families
Esther Moraleda Sepúlveda, Patricia López Resa
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations
Stefanie Schoenen, Johan Verbeeck, Lukas Koletzko, Isabella Brambilla, Mathieu Kuchenbuch, Maya Dirani, Georg Zimmermann, Holger Dette, Ralf-Dieter Hilgers, Geert Molenberghs, Rima Nabbout
Increased prevalence of peripheral vestibular disorder among patients with Fabry disease
Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen, Herng-Ching Lin
Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
Joana Poejo, Ana Isabel Gomes, Pedro Granjo, Vanessa dos Reis Ferreira
The health-care utilization and economic burden in patients with genetic skeletal disorders
Luna Liu, Yingzhou Shi, Xiude Fan, Yangyang Yao, Wanhong Wu, Yang Tian, Huixiao Wu, Zongyue Li, Yanzhou Wang, Chao Xu
Hemodynamic changes and perinatal outcome associated with umbilical artery thrombosis: a retrospective study
Peng Tu, Xiaohang Zhang, Chunyan Zhong, Qian Ran, Suzhen Ran
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
Lijuan Huang, Xueqing Bai, Yan Xie, Yunyu Zhou, Jin Wu, Ningdong Li
Crigler-Najjar syndrome: looking to the future does not make us forget the present
Fabiola Di Dato, Giuseppe D’Uonno, Raffaele Iorio
Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang, Hui Xiong, Rongrong Liu, Changxia Liu, Jibao Wu, Jie Lin, Jianying Xi, Wenhua Zhu, Song Tan, Fuchen Liu, Jiahong Lu, Chongbo Zhao, Sushan Luo
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan
Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt, Yuji Sato
Adherence to medical treatment for Wilson’s disease in children and adolescents: a cohort study from Turkey
Mehmet Akif Göktaş, Nadir Yalcin
Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex
Matthias Sauter, Lea Weber, Dominik Jung, Michael Weremko, Dorothea Bachmann, Michael Fischereder, Hagen Sjard Bachmann
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
Amira Ahmed Elfituri, Manuel Joaquín De Nova, Mohammadamin Najirad
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M. Dahir
Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II
Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano, David Alexanderian
Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome
Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline
Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry
Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry, Siddharth K Prakash
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case
Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone, Katharina Schoner
Pilot study of the effectiveness of a telehealth group for improving peer relationships for adolescents with neurofibromatosis type 1
Danielle M. Glad, Sara K. Pardej, Ellen Olszewski, Bonita P. Klein-Tasman
Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta
Yazhao Mei, Yunyi Jiang, Li Shen, Zheying Meng, Zhenlin Zhang, Hao Zhang
A systematic review of real-world evidence (RWE) supportive of new drug and biologic license application approvals in rare diseases
Shailja Vaghela, Kaniz Afroz Tanni, Geetanjoli Banerjee, Vanja Sikirica
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa
Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel
The impact of amplification on quality of life in women with Turner syndrome
Lauren Mann, Lindsey VanLooy
Lymphatic drainage of sinonasal malignancies and the role of sentinel node biopsies
Fatemeh Kashani, BG Weiss, P Bartenstein, M Canis, F Haubner
De novo variants of IRF2BPL result in developmental epileptic disorder
Yong Wang, Zhongling Ke, Yufen Li, Mingqi Qiu, Jing Liu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Shan Chen
Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region
Wendy Wagner, Tom A. Doyle, Clair A. Francomano, Dacre R. T. Knight, Colin M. E. Halverson
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Zhiying Xie, Chang Liu, Haiyan Yu, Zhihao Xie, Chengyue Sun, Ying Zhu, Xiaoyu Hu, Li Bai, Luhua Wei, Peng Sun, Yanyu Lu, Yunlong Lu, Yawen Zhao, Wei Zhang, Zhaoxia Wang, Lingchao Meng, Yun Yuan
Substance use disorder of equimolar oxygen-nitrous oxide mixture in French sickle-cell patients: results of the PHEDRE study
Marie Gérardin, Morgane Rousselet, Marie-Laure Couec, Agathe Masseau, Christelle Chantalat, Françoise Driss, Corinne Guitton, Karima Debbache, Elena Foïs, Frédéric Galacteros, Anoosha Habibi, Anne Léon, Sarah Mattioni, Aline Santin, Scylia Alexis-Fardini, Edima Augusty, Marie Billaud, Lydia Divialle-Doumdo, Maryse Etienne-Julan, Nathalie Lemonne, Marie Petras, Cécile Arnaud, Annie Kamdem, Corinne Pondarré, Amélie Passeron, Christian Rose, Pierre Mornand, Assa Niakaté, Marie-Hélène Odièvre, Cécile Dumesnil, Agnès Lahary, Stéphanie Ngo, Line Haustant-Andry, Romana Ifrim, Gylna Loko, Marie-Laure Couec, Agathe Masseau, Violaine Noël, Claire Pluchart, Shanti Amé, Catherine Paillard, Abdourahim Chamouine, Alain Garou, Marie-Rita Andreu, Jean-François Brasme, Martine Gardembas, Marie-Catherine Receveur, Camille Runel-Belliard, Odile Lejars, Jean-Baptiste Valentin, Corinne Armari, Caroline Makowski, Pierre Cougoul, Anne Besançon, Habib Ghnaya, Vanina Giaccobbi, Aurélie Grados, Estelle Jean, Isabelle Thuret, Marie-Françoise Barrault-Anstett, Mohamed Condé, Suzanne N’dizeye, Laurent Holvoet, Guillaume Gondran, Christophe Piguet, Marie-Pierre Castex, Ana Berceanu, Pauline Simon, Wadih Abouchahla, Anne Lambilliotte, Giovanna Cannas, Alexandra Gauthier, Solène Poutrel, Fabrice Monpoux, Pierre Simon Rohrlich, Audrey Barrelet, Jérôme Clouzeau, Adeline Mallard, Valérie Li Thiao Te, Lavinia Merlusca, Etienne Merlin, Marc Ruivard, Damien Bodet, Hyacinthe Johnson, Odile Minckes, Elodie Colomb-Bottollier, Tackwa Khalifeh, Alain Ramassamy, Stanislas Nimubona, Fabienne Toutain, Arnaud Boutet, Julie Graveleau, Samir Harchaoui, Muriel Lalande, Robert Navarro, Aurélie Desbrée, Isabelle Guichard, Liana Carausu, Jean-Richard Eveillard, Julie Machin, Marie-Hélène Pierre, Diane Cerutti, Narcisse Elenga, Aurélie Aquizerate, Nicolas Authier, Sylvie Deheul, Anne Roussin, Joelle Micallef, Samira Djezzar, Nicolas Authier, Alexandra Boucher, Anne-Sylvie Caous, Sylvie Deheul, Amélie Daveluy, Samira Djezzar, Nathalie Fouilhé, Valérie Gibaja, Reynald Le Boisselier, Joëlle Micallef, Stéphanie Pain, Hélène Peyrière, Anne Roussin, Caroline Victorri-Vigneau, Fanny Feuillet, Pascale Jolliet, Marie Grall-Bronnec, Caroline Victorri-Vigneau
The parent and family impact of CLN3 disease: an observational survey-based study
Angela Schulz, Nita Patel, Jon J. Brudvig, Frank Stehr, Jill M. Weimer, Erika F. Augustine
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, Chun-xiu Gong
Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
Anika Varma, Jennifer Weinstein, Jamison Seabury, Spencer Rosero, Nuran Dilek, John Heatwole, Charlotte Engebrecht, Shaweta Khosa, Kaitlin Chung, Asif Paker, Amy Woo, Gregory Brooks, Chan Beals, Rohan Gandhi, Chad Heatwole
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince, Frank Rauch
Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns, K. L. Galvin
Cardiovascular disease in Alpha 1 antitrypsin deficiency: an observational study assessing the role of neutrophil proteinase activity and the suitability of validated screening tools
E. Sapey, L. E. Crowley, R. G. Edgar, D. Griffiths, S. Samanta, H. Crisford, C. E. Bolton, J. R. Hurst, R. A. Stockley
Correction to: Analysis of the first ten years of FDA’s rare pediatric disease priority review voucher program: designations, diseases, and drug development
Catherine Mease, Kathleen L. Miller, Lewis J. Fermaglich, Jeanine Best, Gumei Liu, Erika Torjusen
Clinicopathological features and surgical procedures of adnexal masses with abdominal pain in pediatric and adolescent patients
Qian Liu, Zhiqiang Li, Huimei Zhou, Dongyan Cao, Jiaxin Yang, Keng Shen, Jinghe Lang
Intraoperative mechanical ventilation and incidence of pneumothorax in lymphangioleiomyomatosis
Chen Sun, Lijian Pei, Chongsheng Cheng, Bing Bai, Kai-Feng Xu, Yuguang Huang
Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome
Luciana Gizzo, Geraldine Bliss, Chrystal Palaty, Alexander Kolevzon
Moderate- to vigorous-intensity physical activities for hemophilia A patients during low-dose pharmacokinetic-guided extended half-life factor VIII prophylaxis
Chonlatis Srichumpuang, Arunothai Rakmanotham, Chatphatai Moonla, Darintr Sosothikul
Sonographic characteristics of diffuse sclerosing variant of papillary thyroid carcinoma with histopathological correlation: a preliminary study
Wanying Li, Ying Wang, Luying Gao, Ruie Feng, Ke Lv, Xining Wu, Xiao Yang, Sheng Cai, Hongyan Wang, Jianchu Li
Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
Jan Johnson, Wendy Somerfield, Simon R. Johnson
The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
Hemmo A.F. Yska, Marc Engelen, Marianna Bugiani
Correction: A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
Michał Nowicki, Stanisława Bazan‑Socha, Beata Błażejewska‑Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia‑Stec, Zofia Oko‑Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma, Manoj K Goyal
Genetic insights into the ‘sandwich fusion’ subtype of Klippel–Feil syndrome: novel FGFR2 mutations identified by 21 cases of whole-exome sequencing
Nanfang Xu, Kan-Lin Hung, Xiaoli Gong, Dongwei Fan, Yinglun Tian, Ming Yan, Yuan Wei, Shenglin Wang
Correction to: 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
Social support and medication adherence among adult myasthenia gravis patients in China: the mediating role of mental health and self-efficacy
Jiazhou Yu, Luyao Xie, Shanquan Chen, Zhilan Fang, Liling Zhu, Huanyu Zhang, Richard H. Xu, Huan Yang, Dong Dong
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease
Chung-Hsing Wang, Yu‐Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh‐Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su, Fuu-Jen Tsai
Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
Fang Guo, Lingna Zhou, Feng Zhang, Bin Yu, Yuqi Yang, Zhiwei Liu
Sleep disturbance in Angelman syndrome patients
Song Qu, Junyi Wang, Xingying Guan, Cui Song, Yanyan Wang
Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening
Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Georgi Iskrov, Georgi Stefanov, Merja Vakevainen, Kaisa Elomaa, Yuen-Sum Man, Edith Gross, Jana Zschüntzsch, Richard Röttger, Rumen Stefanov
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype
Liesbet D. F. M. Van Hirtum, Tine Van Damme, Johan L. K. Van Hove, Jean G. Steyaert
The socioeconomic epidemiology of inherited retinal diseases in Portugal
Ana Marta, João Pedro Marques, Cristina Santos, Luísa Coutinho-Santos, Sara Vaz-Pereira, José Costa, Pedro Arede, Raquel Félix, Sara Geada, Nuno Gouveia, Rui Silva, Margarida Baptista, Miguel Lume, Ricardo Parreira, Célia Azevedo Soares, Maria João Menéres, Carolina Lemos, João Melo Beirão
Genotype-phenotype associations in microtia: a systematic review
Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi
Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents
Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Llòria, Irene Koulinska, Meghan McGee, Dawn Laney
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox, Benedikt Schoser
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang, Li Liu
Diagnostic delay of sarcoidosis: an integrated systematic review
Tergel Namsrai, Christine Phillips, Anne Parkinson, Dianne Gregory, Elaine Kelly, Matthew Cook, Jane Desborough
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults
Lili Cao, Xiuxin Ling, Jianguo Yan, Danni Feng, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Shishu Zhu, Yinjie Gao, Zhenhua Cao, Min Zhang
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment
Karen S. Yee, David Alexanderian, Susan Martin, Bimpe Olayinka-Amao, David A. H. Whiteman
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren, Xiangdong Kong
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany
Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob
Comment on Ombashi, van der Goes, Versnel, Khonsari, van der Molen: guidance to develop a multidisciplinary, international, pediatric registry: a systematic review, Orphanet Journal of Rare diseases, 2023
Kristina Klintö, Magnus Becker
Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
L. Johansen, F. O’Hare, E. R. Shepard, L. N. Ayton, L. J. Pelentsov, L. S. Kearns, K. L. Galvin
Economic burden of patients with post-surgical chronic and transient hypoparathyroidism in the United States examined using insurance claims data
Kathleen L Deering, Niccole J Larsen, Patrick Loustau, Blandine Weiss, Soraya Allas, Michael D Culler, Qing Harshaw, Deborah M. Mitchell
Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study
Natalja Haninger-Vacariu, Kyra Anastopoulos, Christof Aigner, Raute Sunder-Plassmann, Constantin Gatterer, Markus Ponleitner, Gere Sunder-Plassmann, Alice Schmidt
Correction: The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
Amira Ahmed Elfituri, Manuel Joaquín De Nova, Mohammadamin Najirad
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Nicos Skordis, Leonidas A. Phylactou
The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
Rani H. Singh, Marie-Hélène Bourdages, Angela Kurtz, Erin MacLoed, Chelsea Norman, Suzanne Ratko, Sandra C. van Calcar, Aileen Kenneson
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
Heidi Arponen, Svetlana Vakkilainen, Natalie Tomnikov, Teemu Kallonen, Steffi Silling, Outi Mäkitie, Jaana Rautava
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis
Yumeng Shi, Hanxiao You, Chang Liu, Yulu Qiu, Chengyin Lv, Yujing Zhu, Lingxiao Xu, Fang Wang, Miaojia Zhang, Wenfeng Tan
NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
Zhong-Die Li, Yu-Chuan Li, Jing-Zhao, Jian-She Wang, Xin-Bao Xie
A quantitative and qualitative analysis of patient group narratives suggests common biopsychosocial red flags of undiagnosed rare disease
Mariam Al-Attar, Sondra Butterworth, Lucy McKay
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases
Carol Mansfield, Marco Boeri, Josh Coulter, Eileen Baranowski, Susan Sparks, Kristina An Haack, Alaa Hamed
Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot study
Hui-ling Lin, Qing-qing Zheng, Ru-lin Huang, Rong Hu, Xiao-dan Liu, Jia-yi Wang
Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease
Amir Ali Mahboobipour, Moein Ala, Javad Safdari Lord, Arash Yaghoobi
‘BLUES’ procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
Valerio Di Martino, Fabiana Mallone, Alessandro Lambiase, Mauro Celli, Alice Mannocci, Luca Celli, Pietro Mangiantini, Pasquale Fino, Antonietta Moramarco
Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center
Bruno Donadille, Sonja Janmaat, Héléna Mosbah, Inès Belalem, Sophie Lamothe, Mariana Nedelcu, Anne-Sophie Jannot, Sophie Christin-Maitre, Bruno Fève, Camille Vatier, Corinne Vigouroux