Ausgabe 1/2022
Inhalt (449 Artikel)
The attitude of patients with progressive ataxias towards clinical trials
Gilbert Thomas-Black, Andrada Dumitrascu, Hector Garcia-Moreno, Julie Vallortigara, Julie Greenfield, Barry Hunt, Susan Walther, Mackenzie Wells, David R. Lynch, Hugh Montgomery, Paola Giunti
Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study
Fengying Lu, Peng Xue, Bin Zhang, Jing Wang, Bin Yu, Jianbin Liu
Postmarketing safety of orphan drugs: a longitudinal analysis of the US Food and Drug Administration database between 1999 and 2018
Min Fan, Adrienne Y. L. Chan, Vincent K. C. Yan, Xinning Tong, Lauren K. W. Lau, Eric Y. F. Wan, Eliza Y. T. Tam, Patrick Ip, Terry Y. Lum, Ian C. K. Wong, X. Li
Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies
Virginia Fano, Chong A. Kim, Pablo Rosselli, Regina El Dib, Renée Shediac, Tatiana Magalhães, Debora Mesojedovas, Juan Llerena Jr
A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities
Jacqueline Montes, Katy J. Eichinger, Amy Pasternak, Cara Yochai, Kristin J. Krosschell
Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy
Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds, Tarekegn Geberhiwot
Small fiber neuropathy for assessment of disease severity in amyotrophic lateral sclerosis: corneal confocal microscopy findings
Jiayu Fu, Ji He, Yixuan Zhang, Ziyuan Liu, Haikun Wang, Jiameng Li, Lu Chen, Dongsheng Fan
A retrospective cohort study on European Reference Network for Rare Vascular Diseases 5 outcome measures for Hereditary Haemorrhagic Telangiectasia in Denmark
Troels Hvelplund, Bibi Lange, Susanne Djernes Bird, Malene Korsholm, Anette Drøhse Kjeldsen
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials
Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen, Ari Zimran
Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants
Aria Setoodeh, Samareh Panjeh-Shahi, Fariba Bahmani, Fatemeh Vand-Rajabpour, Nazanin Jalilian, Fatemeh Sayarifard, Farzaneh Abbasi, Azadeh Sayarifard, Parastoo Rostami, Nima Parvaneh, Haleh Akhavan-Niaki, Mohamadreza Ahmadifard, Mina Tabrizi
The PID Life Index: an interactive tool to measure the status of the PID healthcare environment in any given country
Leire Solís, Julia Nordin, Johan Prevot, Nizar Mahlaoui, Silvia Sánchez-Ramón, Adli Ali, Elodie Cassignol, John W. Seymour, Martine Pergent
Ketogenic diet for mitochondrial disease: potential role in treating the Multiple Symmetric Lipomatosis phenotype associated with the common MT-TK genetic mutation
Andre Mattman, Elizabeth Nadeau, Michelle M. Mezei, Mark Cresswell, Sida Zhao, Taryn Bosdet, Don D. Sin, Jordan A. Guenette, Isabelle Dupuis, Emily Allin, David C. Clarke
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience
R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro
Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research
Trine Bathen, Heidi Johansen, Hilde Strømme, Gry Velvin
Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study
Neta Aviran, Gil Amarilyo, Yaniv Lakovsky, Rotem Tal, Jenny Garkaby, Rubi Haviv, Yosef Uziel, Shiri Spielman, Hamada Mohammad Natour, Yonatan Herman, Oded Scheuerman, Yonatan Butbul Aviel, Yoel Levinsky, Liora Harel
Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Sarah C. Grünert, Jörn Oliver Sass
Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals
Juan de Dios García-Díaz, Mónica López-Rodríguez, Montserrat Morales-Conejo, Antoni Riera-Mestre
Correction to: 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
Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment
Amanda Mortensen, Eva M. Raebel, Samantha Wiseman
Growth pattern trajectories in boys with Duchenne muscular dystrophy
Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni, Giovanni Baranello, Gautam Ambegaonkar, Zoya Alhaswani, Alex Baxter, Anne-Marie Childs, Gabby Chow, Christian De Goede, Miguel Fernandez, Frances Gibbon, Vasantha Gowda, Michela Guglieri, Tony Hart, Gemunu Hewawitharana, Iain Horrocks, Imelda Hughes, Marjorie Illingworth, Deepa Krishnakumar, Anirban Majumdar, Chiara Marini-Bettolo, Min Ong, Deepak Parasuraman, Sithara Ramdas, Laurent Servais, Kate Skone, Stefan Spinty, Elma Stephens, Volker Straub, Sandya Tirupathi, Neil Thomas, Tracey Willis, Cathy White, Jarod Wong, Elizabeth Wraige, Kayal Vijayakumar, Karen Naismith
Correction to: 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
Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum
Eugénie Koumakis, Valérie Cormier-Daire, Azeddine Dellal, Marc Debernardi, Bernard Cortet, Françoise Debiais, Rose-Marie Javier, Thierry Thomas, Nadia Mehsen-Cetre, Martine Cohen-Solal, Elisabeth Fontanges, Michel Laroche, Valérie Porquet-Bordes, Christian Marcelli, Alexandra Benachi, Karine Briot, Christian Roux, Catherine Cormier
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Manisha Korb, Allison Peck, Lindsay N. Alfano, Kenneth I. Berger, Meredith K. James, Nupur Ghoshal, Elise Healzer, Claire Henchcliffe, Shaida Khan, Pradeep P. A. Mammen, Sujata Patel, Gerald Pfeffer, Stuart H. Ralston, Bhaskar Roy, William W. Seeley, Andrea Swenson, Tahseen Mozaffar, Conrad Weihl, Virginia Kimonis, Roberto Fanganiello, Grace Lee, Ryan Patrick Mahoney, Jordi Diaz-Manera, Teresinha Evangelista, Miriam Freimer, Thomas E. Lloyd, Benison Keung, Hani Kushlaf, Margherita Milone, Merrilee Needham, Johanna Palmio, Tanya Stojkovic, Rocío-Nur Villar-Quiles, Leo H. Wang, Matthew P. Wicklund, Frederick R. Singer, Mallory Jones, Bruce L. Miller, S. Ahmad Sajjadi, Andre Obenaus, Michael D. Geschwind, Ammar Al-Chalabi, James Wymer, Nita Chen, Katie Kompoliti, Stephani C. Wang, Catherine A. Boissoneault, Betsaida Cruz-Coble, Kendrea L. Garand, Anna J. Rinholen, Lauren Tabor-Gray, Jeffrey Rosenfeld, Ming Guo, Nathan Peck
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression
Eungu Kang, Yoon-Myung Kim, Yunha Choi, Yena Lee, JunYoung Kim, In Hee Choi, Han-Wook Yoo, Hee Mang Yoon, Beom Hee Lee
Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients
Marisa E. Schwab, Julia E. H. Brown, Billie Lianoglou, Chengshi Jin, Patricia C. Conroy, Renata C. Gallagher, Paul Harmatz, Tippi C. MacKenzie
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus
Florin Bösch, Nina A. Zeltner, Matthias R. Baumgartner, Martina Huemer, Markus A. Landolt
Phelan-McDermid syndrome: a classification system after 30 years of experience
Katy Phelan, Luigi Boccuto, Craig M. Powell, Tobias M. Boeckers, Conny van Ravenswaaij-Arts, R. Curtis Rogers, Carlo Sala, Chiara Verpelli, Audrey Thurm, William E. Bennett Jr., Christopher J. Winrow, Sheldon R. Garrison, Roberto Toro, Thomas Bourgeron
Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study
Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat, David J. Tomlinson
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Groß, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz
Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH)
Francis H. Glorieux, Lynda F. Bonewald, Nicholas C. Harvey, Marjolein C. H. van der Meulen
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease
Harmke A. van Kooten, Imke A. M. Ditters, Marianne Hoogeveen-Westerveld, Edwin H. Jacobs, Johanna M. P. van den Hout, Pieter A. van Doorn, W. W. M. Pim Pijnappel, Ans T. van der Ploeg, Nadine A. M. E. van der Beek
Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study
Claudia Mighiu, Sonia O’Hara, Enrico Ferri Grazzi, Karen F. Murray, Jörn M. Schattenberg, Emily Ventura, Melanie Karakaidos, Alison Taylor, Harpreet Brrang, Anil Dhawan, Jose Willemse, Alan Finnegan
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada
Atypical skeletal involvement in patients with Erdheim–Chester disease: CT imaging findings
Zaizhu Zhang, Wei Yu, Wenmin Guan, Qiang Lin, Ali Guermazi
Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study
Georgie Agar, Stacey Bissell, Lucy Wilde, Nigel Over, Caitlin Williams, Caroline Richards, Chris Oliver
Patients’ access to rare neuromuscular disease therapies varies across US private insurers
Nikoletta M. Margaretos, Komal Bawa, Natalie J. Engmann, James D. Chambers
Neuroradiological differentiation of white matter lesions in patients with multiple sclerosis and Fabry disease
Jakob Rath, Olivia Foesleitner, Lukas Haider, Hubert Bickel, Fritz Leutmezer, Stephan Polanec, Michael A. Arnoldner, Gere Sunder-Plassmann, Daniela Prayer, Thomas Berger, Paulus Rommer, Gregor Kasprian
Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency
Peter Kühnen, Martin Wabitsch, Julia von Schnurbein, Costel Chirila, Usha G. Mallya, Patrick Callahan, Ari Gnanasakthy, Christine Poitou, Philipp M. Krabusch, Murray Stewart, Karine Clément
Intermediate-dose cytarabine is an effective therapy for adults with non-Langerhans cell histiocytosis
Ting Liu, Hua-cong Cai, Hao Cai, Miao Chen, Wei Zhang, Jian Li, Dao-bin Zhou, Xin-xin Cao
A cross-sectional study of gender differences in quality of life domains in patients with neurofibromatosis type 1
G. Hamoy-Jimenez, H. A. Elahmar, M. Mendoza, R. H. Kim, V. Bril, C. Barnett
Contraceptive use in women with inherited metabolic disorders: a retrospective study and literature review
Jessica I. Gold, Nina B. Gold, Diva D. DeLeon, Rebecca Ganetzky
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
Derralynn A. Hughes, Patrício Aguiar, Olivier Lidove, Kathleen Nicholls, Albina Nowak, Mark Thomas, Roser Torra, Bojan Vujkovac, Michael L. West, Sandro Feriozzi
Integrating rare disease management in public health programs in India: exploring the potential of National Health Mission
Mohua Chakraborty Choudhury, Pragya Chaube
Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists
Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin, Justin T. Jordan
Diagnostic value of fetal hemoglobin Bart’s for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy
Kritsada Singha, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen
Is physical activity a future therapy for patients with Marfan syndrome?
Steeve Jouini, Olivier Milleron, Ludivine Eliahou, Guillaume Jondeau, Damien Vitiello
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study
Helge Hebestreit, Cornelia Zeidler, Christopher Schippers, Martina de Zwaan, Jürgen Deckert, Peter Heuschmann, Christian Krauth, Monika Bullinger, Alexandra Berger, Mark Berneburg, Lilly Brandstetter, Anna Deibele, Jan Dieris-Hirche, Holm Graessner, Harald Gündel, Stephan Herpertz, Gereon Heuft, Anne-Marie Lapstich, Thomas Lücke, Tim Maisch, Christine Mundlos, Andrea Petermann-Meyer, Susanne Müller, Stephan Ott, Lisa Pfister, Julia Quitmann, Marcel Romanos, Frank Rutsch, Kristina Schaubert, Katharina Schubert, Jörg B. Schulz, Susann Schweiger, Oliver Tüscher, Kathrin Ungethüm, Thomas O. F. Wagner, Kirsten Haas, Federica Akkaya, Christine Babka, Lavinia Bârlescu, Anja Bärsch-Michelmann, Astrid Bergbreiter, Janika Blömeke, Leonie Böhm, Benita Böttger, Birgit Braun, Folke Brinkmann, Vanessa Britz, Holger Cario, Melisa Celiker, Moritz de Greck, Klaus-Michael Debatin, Katrin Dillmann-Jehn, Max Ertl, Monika Ettinger, Jutta Eymann, Jörg Frommer, Martina Gabrian, Anja Glode, Vega Gödecke, Corinna Grasemann, Eva Grauer, Helmut Greger, Astrid Haas, Martina Haase, Lea Haisch, Isabel Heinrich, Melissa Held, Julia Hennermann, Anne Herrmann-Werner, Julian Hett, Bettina Hilbig, Laura Holthöfer, Christiane Imhof, Titus Jacob, Florian Junne, Stefanie Karl, Jan Kassubek, Lisa Kick, Kevin-Thomas Koschitzki, Heike Krassort, Christian Kratz, Kaja Kristensen, Birgit Kropff, Julia Kuhn, Philipp Latzko, Thomas Loew, Delia Lorenz, Albert C. Ludolph, Isabell Meyer dos Santos, Torsten Meyer, Klaus Mohnike, Martina Monninger, Thomas Musacchio, Amalia Nicole Nanciu, Margret Nießen, Mariell Nöhre, Aikaterini Papagianni, Christina Pfeifer-Duck, Lea-Sophie Piduhn, Carina Rampp, Antonia Richter, Olaf Rieß, Annika Schmidt, Simone Schneider, Ludger Schoels, Martina Schwalba, Udo Selig, Astrid Spangenberger, Alexandra Sroka, Toni Steinbüchel, Sebastian Stösser, Steffi Suchant, Matthias Vogel, Daniela Volk, Christoph Vollmuth, Solange Volnov, Sabrina Walter, Bodo Warrings, Christine Weiler, Stefanie Witt, Kamil Kajetan Zajt, Lena Zeltner, Karola Zenker, Kailun David Zhang, Stephan Zipfel
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf
Development of models of care coordination for rare conditions: a qualitative study
Holly Walton, Amy Simpson, Angus I. G. Ramsay, Amy Hunter, Jennifer Jones, Pei Li Ng, Kerry Leeson-Beevers, Lara Bloom, Joe Kai, Maria Kokocinska, Alastair G. Sutcliffe, Stephen Morris, Naomi J. Fulop
Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects
Ola Hammarsten, Anna Lyytikäinen, Sofia Thunström, Torben Ek, Anders Fasth, Olov Ekwall, Sara Cajander, Emilie Wahren Borgström, C. I. Edvard Smith, Pegah Johansson
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot
Risk factors for pregnancy-related clinical outcome in myasthenia gravis: a systemic review and meta-analysis
Manqiqige Su, Xiaoqing Liu, Liang Wang, Jie Song, Zhirui Zhou, Sushan Luo, Chongbo Zhao
Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review
Aldona Pietrzak, Bartlomiej Wawrzycki, Matthias Schmuth, Katarzyna Wertheim-Tysarowska
Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study
Orlando Buendia, Sneha Shankar, Hadley Mahon, Connor Toal, Lara Menzies, Pradeep Ravichandran, Jane Roper, Jag Takhar, Rudy Benfredj, Will Evans
Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue
Elisabetta Indelicato, Michael Zech, Matthias Amprosi, Sylvia Boesch
Assessing the role of blood pressure in amyotrophic lateral sclerosis: a Mendelian randomization study
Kailin Xia, Linjing Zhang, Lu Tang, Tao Huang, Dongsheng Fan
Long-term clinical efficacy of topical treatment with recombinant human nerve growth factor in neurotrophic keratopathy: a novel cure for a rare degenerative corneal disease?
Alice Bruscolini, Marco Marenco, Giuseppe Maria Albanese, Alessandro Lambiase, Marta Sacchetti
Challenges and improvement needs in the care of patients with central diabetes insipidus
H. Teare, J. Argente, M. Dattani, J. Leger, M. Maghnie, M. Sherlock, G.-C. Ali, J. Francombe, S. Marjanovic
Correction to: 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
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
María Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, Jordi Corominas, Raquel Rabionet, Susana Puig, Irene Madrigal
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton
Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia
Zhi-Gui Zeng, Guang-Peng Zhou, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Li-Ying Sun, Zhi-Jun Zhu
Eight months follow-up of corneal nerves and sensitivity after treatment with cenegermin for neurotrophic keratopathy
Emilio Pedrotti, Erika Bonacci, Chiara Chierego, Alessandra De Gregorio, Tiziano Cozzini, Tommaso Brighenti, Grazia Caldarella, Giovanlorenzo Pastore, Adriano Fasolo, Giorgio Marchini
RETRACTED ARTICLE: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing
Xiqiao Xu, Ruifeng Song, Kaiyue Hu, Ya Li, Haixia Jin, Bing Chen, Wenyan Song, Yile Zhang, Jiawei Xu, Yingpu Sun
Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III
Ying Chen, Jiajun Qiu, Yingwei Wu, Huan Jia, Yi Jiang, Mengda Jiang, Zhili Wang, Hai-Bin Sheng, Lingxiang Hu, Zhihua Zhang, Zhaoyan Wang, Yun Li, Zhiwu Huang, Hao Wu
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
Xinwen Huang, Dingwen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jianbin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao, Zhengyan Zhao
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis
Isabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey
Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, Nadia Belmatoug
The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey
J. E. Whittington, A. J. Holland, D. J. Driscoll, N. Hodebeck-Stuntebeck, A. Hoctor
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study
Esther S. Veldhoen, Camiel A. Wijngaarde, Erik H. J. Hulzebos, Roelie M. Wösten-van Asperen, Renske I. Wadman, Ruben P. A. van Eijk, Fay Lynn Asselman, Marloes Stam, Louise A. M. Otto, Inge Cuppen, Feline E. V. Scheijmans, Laura P. Verweij-van den Oudenrijn, Bart Bartels, Michael A. Gaytant, Cornelis K. van der Ent, W. Ludo van der Pol
Exploring intersectionality: an international yet individual issue
Zainab Alani
Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study
Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, Mette Christophersen Tollånes
Collaborative research protocol to define patient-reported experience measures of the cystic fibrosis care pathway in France: the ExPaParM study
D. Pougheon Bertrand, A. Fanchini, P. Lombrail, G. Rault, A. Chansard, N. Le Breton, C. Frenod, F. Milon, C. Heymes-Royer, D. Segretain, M. Silber, S. Therouanne, J. Haesebaert, C. Llerena, P. Michel, Q. Reynaud
Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival
Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi
Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
Sally Lanar, Samantha Parker, Cara O’Neill, Alexia Marrel, Benoit Arnould, Bénédicte Héron, Nicole Muschol, Frits A. Wijburg, Anupam Chakrapani, Sophie Olivier, Karen Aiach
Rare disorders have many faces: in silico characterization of rare disorder spectrum
Simona D. Frederiksen, Vladimir Avramović, Tatiana Maroilley, Anna Lehman, Laura Arbour, Maja Tarailo-Graovac
Craniofacial and dentoalveolar morphology in individuals with Prader–Willi syndrome: a case-control study
Gisela Vasconcelos, Jo S. Stenehjem, Stefan Axelsson, Ronnaug Saeves
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
Yohei Sugiyama, Taijiro Watanabe, Makiko Tajika, Tetsuro Matsuhashi, Masaru Shimura, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomohiro Ebihara, Tomoko Tsuruoka, Tomoyuki Akiyama, Kei Murayama
Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019
Sarah J. Howe, David Lapidus, Michael Hull, Jason Yeaw, Tanya Stevenson, Jacinda B. Sampson
Identification of immune-infiltrated hub genes as potential biomarkers of Moyamoya disease by bioinformatics analysis
Fa Jin, Chuanzhi Duan
Wilson disease in Northern Portugal: a long-term follow-up study
Isabel Garrido, Margarida Marques, Rodrigo Liberal, Hélder Cardoso, Susana Lopes, Guilherme Macedo
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani, Franco Antoniazzi
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida V. D. Schwartz, Jonas A. Saute, Victor E. F. Ferraz, Angelina X. Acosta, Ney Boa Sorte, Domingos Alves, Tatiana Amorim, Gisele Maria Araujo Felix Adjuto, Rosemarie Elizabeth Schimidt Almeida, Flávia Resedá Brandão, Larissa Souza Mario Bueno, Maria Denise Fernandes Carvalho de Andrade, Cristina Iacovelo Cagliari, Maria Terezinha Cardoso, Ellaine Doris Fernandes Carvalho, Marcela Câmara Machado Costa, Antonette El-Husny, Lavinia Schuler Faccini, Rodrigo Ambrosio Fock, Rodrigo Neves Florêncio, Marcial Francis Galera, Roberto Giugliani, Liane de Rosso Giuliani, Anette S. Grumach, Dafne G. Horovitz, Juan Clinton Llerena-Junior, Chong A. E. Kim, Rayana Elias Maia, Ana Maria Martins, Paula Frassinetti Vasconcelos de Medeiros, Nina Rosa de Castro Musolino, Marcelo Eidi Nita, Henrique Gil da Silva Nunesmaia, Jose Carlison Santos de Oliveira, Wagner José Martins Paiva, Helena Pimentel, Louise Lapagesse de Camargo Pinto, Vânia Mesquita Gadelha Prazeres, Betânia de Freitas Rodrigues Ribeiro, Erlane Ribeiro, Márcia Maria Jardim Rodrigues, Maria José Sparça Salles, Maria Teresa Vieira Sanseverino, Eliane Pereira dos Santos, Mara Lucia Schmitz Ferreira Santos, Flávia Mori Sarti, Luiz Carlos Santana da Silva, Raquel Tavares Boy da Silva, Carlos Eduardo Steiner, Ana Beatriz Winter Tavares, Thais Bonfim Teixeira, Alberto Vergara, Paulo Ricardo Gazzola Zen, Marcos Guimarães Zuchetti
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients
Laura Pena-Couso, María Ercibengoa, Fátima Mercadillo, David Gómez-Sánchez, Lucía Inglada-Pérez, María Santos, Javier Lanillos, David Gutiérrez-Abad, Almudena Hernández, Pablo Carbonell, Rocío Letón, Mercedes Robledo, Cristina Rodríguez-Antona, José Perea, Miguel Urioste, Miguel Ángel Alonso, Raquel Andrés, Sara Arévalo, María del Mar Arias, Judith Balmaña, Elena Beristain, Ignacio Blanco, Mauro Boronat, Joan Brunet, María Victoria Cózar, Miguel del Campo, Arantza Díaz, Elisabeth Gabau, María Jesús Barcina, Margarita González, Miriam Guitart, Imma Hernán, Héctor Salvador Hernández, Susana Hernando, Carmen Lacambra, Adriana Lasa, Enrique Lastra, Gemma Llort, María del Rosario Marín, David Marrupe, Francisco Martínez, Víctor Martínez, Loreto Martorell, María Orera, Susana Pedrinaci, Pedro Pérez, Marta Pineda, Ana María Plasencia, Teresa Ramón y Cajal, Luis Robles, Diana Rodà, Nuria Rodríguez, Jordi Rosell, Raquel Sáez, Mónica Salvat, Antonio Sánchez, Alfredo Santana, José Luis Soto, Agustín Toll, Anna Tuneu, Carlos Vázquez
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy
Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise
I. C. Verma, A. El-Beshlawy, A. Tylki-Szymańska, A. Martins, Y.-L. Duan, T. Collin-Histed, M. Schoneveld van der Linde, R. Mansour, V. C. Dũng, Pramod K. Mistry
Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE)
Paola Palao-Ocharan, Nieves Prior, Elia Pérez-Fernández, Magdalena Caminoa, W. Aberer, S. Betschel, A. Bygum, R. A. Campos, D. Csuka, H. Farkas, C. Gómez-Traseira, A. S. Grumach, I. Leibovich, A. Malbran, D. Moldovan, E. Mihaly, K. Obtulowicz, G. Porebski, A. Reshef, P. Staubach, Teresa Caballero
Establishing and boosting communication in the European Reference Network for Rare Neurological Diseases (ERN-RND): the impact of offering free educational webinars
Alicia Brunelle Praschberger, Annemarie E. M. Post, Sanja Hermanns, Holm Graessner
Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective
Fatih Ezgu, Erkan Alpsoy, Zerrin Bicik Bahcebasi, Ozgur Kasapcopur, Melis Palamar, Huseyin Onay, Binnaz Handan Ozdemir, Mehmet Akif Topcuoglu, Omac Tufekcioglu
Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA
Iain A. Bruce, Fatih S. Ezgü, Christoph Kampmann, Vladimir Kenis, William Mackenzie, Bob Stevens, Robert Walker, Christian Hendriksz
Rosai–Dorfman–Destombes disease of the nervous system: a systematic literature review
Ruham Alshiekh Nasany, Anne S. Reiner, Jasmine H. Francis, Oussama Abla, Katherine S. Panageas, Eli L. Diamond
Age-dependent oral manifestations of neurofibromatosis type 1: a case–control study
Eshwar Thota, John Jims Veeravalli, Sai Krishna Manchala, Bhargavi Priya Lakkepuram, Jayasurya Kodapaneni, Yi-Wen Chen, Li-Tzu Wang, Kevin Sheng-Kai Ma
Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence
C. Catsburg, S. Anderson, N. Upadhyaya, M. Bechter
Neurological signs, symptoms and MRI abnormalities in patients with congenital melanocytic naevi and evaluation of routine MRI-screening: systematic review and meta-analysis
Anne C. Fledderus, Anna Linn Widdershoven, Oren Lapid, Corstiaan C. Breugem, Suzanne G. M. A. Pasmans, Chantal M. A. M. van der Horst, Marc M. Engelen, Phyllis I. Spuls
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, Blandine Acket, Jean-Christophe Antoine, Shahram Attarian, Guillaume Bassez, Anne-Laure Bédat-Millet, Anthony Béhin, Rémi Bellance, Michela Bisciglia, Véronique Bombart, Rosalie Boitet, Pascale Bonnet, Françoise Bouhour, Célia Boutte, Brigitte Chabrol, Jean-Baptiste Chanson, Françoise Chapon, Ariane Choumert, Pauline Coignard, Jean-Yves Cornu, Benoît Daubail, Elisa De La Cruz, Léa Declerck, Capucine Delattre, Florence Demurger, Véronique Dulieu, Aurélie Duruflé, Fanny Duval, Florence Esselin, Teresinha Evangelista, Bruno Eymard, Anthony Faivre, Léonard Féasson, Xavier Ferrer, François Feuvrier, Olivier Flabeau, Mélanie Fradin, Alain Furby, Jérémy Garcia, Hélène Gervais-Bernard, Teresa Gidaro, Karima Ghorab, Marc Jeanpierre, Hubert Journel, Arnaud Lacour, Pascal Laforêt, Emmeline Lagrange, Valérie Layet, Gérard Leclaire, Jean-Luc Le Guiet, Gwenaël Le Guyader, François Leroy, France Leturcq, Nicolas Lévy, Sarah Léonard-Louis, Laurent Magy, Edoardo Malfatti, Marion Masingue, Gilles Mazaltarine, Dominique Ménard, Maud Michaud, Marie-Christine Minot-Myhié, Marie-Doriane Morard, Juliette Nectoux, Karine Nguyen, Julie Nicomette, Jean-Baptiste Noury, Sybille Pellieux, Laetitia Percebois-Macadré, Yann Péréon, Solange Perrin-Callot, Philippe Petiot, Sylviane Peudenier, Bénédicte Pontier, Florence Portet, Jean Pouget, Marguerite Preudhomme, Hélène Rauscent, Dimitri Renard, Audrey Riou, François Rivier, Emmanuelle Salort-Campana, Stéphane Schaeffer, Jean-Philippe Simon, Aurélie Siri, Marco Spinazzi, Tanya Stokovic, Juliette Svahn, François Tabaraud, Frédéric Taithe, Céline Tard, Christel Thauvin, Philippe Thoumie, Claire-Lise Tournier-Gervason, Christine Tranchant, Jon Andoni Urtizberea, Christophe Vial, Michel Vidaud, Fabien Zagnoli
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona, Miriam Schmidts
Primary immune regulatory disorders: Undiagnosed needles in the haystack?
Aisling M. Flinn, Andrew R. Gennery
Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia
C. Tornero, V. Navarro-Compán, A. Buño, K. E. Heath, M. Díaz-Almirón, A. Balsa, J. A. Tenorio, J. Quer, P. Aguado
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients
M. Mouillé, M. Rio, S. Breton, M. L. Piketty, A. Afenjar, J. Amiel, Y. Capri, A. Goldenberg, C. Francannet, C. Michot, C. Mignot, L. Perrin, C. Quelin, J. Van Gils, G. Barcia, V. Pingault, G. Maruani, E. Koumakis, V. Cormier-Daire
Co-occurrence of relapsing polychondritis and autoimmune thyroid diseases
Toshiki Nakajima, Hajime Yoshifuji, Yoshihisa Yamano, Kimiko Yurugi, Yasuo Miura, Taira Maekawa, Tsuneyasu Yoshida, Hiroshi Handa, Koichiro Ohmura, Tsuneyo Mimori, Chikashi Terao
Mild disease course of SARS-CoV-2 infections and mild side effects of vaccination in Pompe disease: a cohort description
G. Ismailova, M. J. Mackenbach, J. M. P. van den Hout, A. T. van der Ploeg, E. Brusse, M. A. E. M. Wagenmakers
Clinical classification, visual outcomes, and optical coherence tomographic features of 48 patients with posterior sympathetic ophthalmia
Hong Zhuang, Rui Zhang, Ting Zhang, Qing Chang, Gezhi Xu
Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts
Sergey Nikolaev, Andrey A. Yurchenko, Alain Sarasin
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
María E. Vázquez-Mosquera, Emiliano González-Vioque, Sofía Barbosa-Gouveia, Diego Bellido-Guerrero, Cristina Tejera-Pérez, Miguel A. Martinez-Olmos, Antía Fernández-Pombo, Luis A. Castaño-González, Roi Chans-Gerpe, María L. Couce
Perfect match: mTOR inhibitors and tuberous sclerosis complex
Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu, Yi Cai
Social and clinical impact of COVID-19 on patients with fibrodysplasia ossificans progressiva
Samuel Kou, Sammi Kile, Sai Samhith Kambampati, Evelyn C. Brady, Hayley Wallace, Carlos M. De Sousa, Kin Cheung, Lauren Dickey, Kelly L. Wentworth, Edward C. Hsiao
Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome
Helen Leonard, Wendy Gold, Rodney Samaco, Mustafa Sahin, Timothy Benke, Jenny Downs
One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN
Laura Paneghetti, Cinzia Maria Bellettato, Annalisa Sechi, Karolina M. Stepien, Maurizio Scarpa
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou, Graeme C. Black
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
Dahae Yang, Sanghyun Cho, Sung Im Cho, Manjin Kim, Moon-Woo Seong, Sung Sup Park
Molecular environment and atypical function: What do we know about enzymes associated with Mucopolysaccharidoses?
Weijing Kong, Cheng Lu, Yingxue Ding, Yan Meng
An international comparative analysis of public reimbursement of orphan drugs in Canadian provinces compared to European countries
Leanne Marie Ward, Alexandra Chambers, Emine Mechichi, Durhane Wong-Rieger, Craig Campbell
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes
Hideki Mutai, Yukihide Momozawa, Yoichiro Kamatani, Atsuko Nakano, Hirokazu Sakamoto, Tetsuya Takiguchi, Kiyomitsu Nara, Michiaki Kubo, Tatsuo Matsunaga
White matter is increased in the brains of adults with neurofibromatosis 1
Su Wang, Jan M. Friedman, Per Suppa, Ralph Buchert, Victor-Felix Mautner
The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome
Rosa Angela Fabio, Martina Semino, Samantha Giannatiempo
Treating rare diseases with the cinema: Can popular movies enhance public understanding of rare diseases?
Jan Domaradzki
Musculoskeletal diseases in Marfan syndrome: a nationwide registry study
Niels H. Andersen, Ellen-Margrethe Hauge, Thomas Baad-Hansen, Kristian A. Groth, Agnethe Berglund, Claus H. Gravholt, Kirstine Stochholm
LncRNA HOTAIR facilitates proliferation and represses apoptosis of retinoblastoma cells through the miR-20b-5p/RRM2/PI3K/AKT axis
Ke Fu, Ke Zhang, Xiaoyu Zhang
Physicians’ knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China
Huanyu Zhang, Ying Xiao, Xinyue Zhao, Zhuang Tian, Shu-yang Zhang, Dong Dong
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
Asma Chikhaoui, Ichraf Kraoua, Nadège Calmels, Sami Bouchoucha, Cathy Obringer, Khouloud Zayoud, Benjamin Montagne, Ridha M’rad, Sonia Abdelhak, Vincent Laugel, Miria Ricchetti, Ilhem Turki, Houda Yacoub-Youssef
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases
Wolfgang H. Ziegler, Sarah Lüdiger, Fatima Hassan, Margarita E. Georgiadis, Kathrin Swolana, Amrit Khera, Arne Mertens, Doris Franke, Kai Wohlgemuth, Mareike Dahmer-Heath, Jens König, Claudia Dafinger, Max C. Liebau, Metin Cetiner, Carsten Bergmann, Birga Soetje, Dieter Haffner
Association of MTHFR rs1801133 and homocysteine with Legg–Calvé–Perthes disease in Mexican patients
José Guillermo Buendía-Pazarán, Edgar Hernández-Zamora, Armando O. Rodríguez-Olivas, Leonora Casas-Ávila, Margarita Valdés-Flores, Elba Reyes-Maldonado
Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex
David M. Ritter, Bailey K. Fessler, Daniel Ebrahimi-Fakhari, Jun Wei, David N. Franz, Darcy A. Krueger, Andrew T. Trout, Alexander J. Towbin
Legg–Calvé–Perthes disease overview
Armando O. Rodríguez-Olivas, Edgar Hernández-Zamora, Elba Reyes-Maldonado
Coexistence of craniopharyngioma and cranial fibrous dysplasia: a case series of clinicopathological study
Yang-Hua Fan, Zhi Li
Liver transplantation in glycogen storage disease: a single-center experience
Zahra Beyzaei, Alireza Shamsaeefar, Kurosh Kazemi, Saman Nikeghbalian, Ali Bahador, Masoud Dehghani, Seyed-Ali Malekhosseini, Bita Geramizadeh
Symptoms and impacts of aromatic l-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function
Kate Williams, Hanna Skrobanski, Katharina Buesch, Sarah Acaster
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians
Qi Ni, Xiang Chen, Ping Zhang, Lin Yang, Yulan Lu, Feifan Xiao, Bingbing Wu, Huijun Wang, Wenhao Zhou, Xinran Dong
Development of a patient journey map for people living with cervical dystonia
Monika Benson, Alberto Albanese, Kailash P. Bhatia, Pascale Cavillon, Lorraine Cuffe, Kathrin König, Carola Reinhard, Holm Graessner
A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, Helen Leonard
Systemic therapy of necrobiotic xanthogranuloma: a systematic review
Lisa Steinhelfer, Thomas Kühnel, Herbert Jägle, Stephanie Mayer, Sigrid Karrer, Frank Haubner, Stephan Schreml
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans
Amokelani C. Mahungu, Nomakhosazana Monnakgotla, Melissa Nel, Jeannine M. Heckmann
The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)
Rita Francisco, Sandra Brasil, Carlota Pascoal, Jaak Jaeken, Merell Liddle, Paula A. Videira, Vanessa dos Reis Ferreira
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
Yi Liu, Zhehui Chen, Hui Dong, Yuan Ding, Ruxuan He, Lulu Kang, Dongxiao Li, Ming Shen, Ying Jin, Yao Zhang, Jinqing Song, Yaping Tian, Yongtong Cao, Desheng Liang, Yanling Yang
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers
Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe
Genotype–phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus–merzbacher disease
Ruoyu Duan, Haoran Ji, Huifang Yan, Junyu Wang, Yu Zhang, Qian Zhang, Dongxiao Li, Binbin Cao, Qiang Gu, Ye Wu, Yuwu Jiang, Ming Li, Jingmin Wang
Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living
Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman, Claire Burbridge
Delineation of dual molecular diagnosis in patients with skeletal deformity
Lian Liu, Liying Sun, Yujun Chen, Muchuan Wang, Chenxi Yu, Yingzhao Huang, Sen Zhao, Huakang Du, Shaoke Chen, Xin Fan, Wen Tian, Zhihong Wu, Guixing Qiu, Terry Jianguo Zhang, Nan Wu
Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database
Kota Ninomiya, Masahiro Okura
Lived experiences of patients with distal renal tubular acidosis treated with ADV7103 and of their caregivers: a qualitative study
Michaël Acquadro, Alexia Marrel, Maria A. Manso-Silván, Catherine Guittet, Sophie Joukoff, Aurélia Bertholet-Thomas
Survival of children with rare structural congenital anomalies: a multi-registry cohort study
Alessio Coi, Michele Santoro, Anna Pierini, Judith Rankin, Svetlana V. Glinianaia, Joachim Tan, Abigail-Kate Reid, Ester Garne, Maria Loane, Joanne Given, Elisa Ballardini, Clara Cavero-Carbonell, Hermien E. K. de Walle, Miriam Gatt, Laura García-Villodre, Mika Gissler, Sue Jordan, Sonja Kiuru-Kuhlefelt, Stine Kjaer Urhoj, Kari Klungsøyr, Nathalie Lelong, L. Renée Lutke, Amanda J. Neville, Makan Rahshenas, Ieuan Scanlon, Diana Wellesley, Joan K. Morris
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Lijia Huang, Jodi Warman-Chardon, Melissa T. Carter, Kathie L. Friend, Tracy E. Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W. Schofield, Stuart Douglas, Dennis E. Bulman, Kym M. Boycott
Correction to: 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
Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS)
Lina Titievsky, Tilman Schuster, Ronnie Wang, Muhammad Younus, Andrew Palladino, Kabir Quazi, Michael P. Wajnrajch, Betina Hernandez, Pamela S. Becker, Neal J. Weinreb, Christina Chambers, Roy Mansfield, Louise Taylor, Li-Jung Tseng, Paige Kaplan
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho Jr, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang
Epidermolysis Bullosa in children: the central role of the pediatrician
Maria Rosaria Marchili, Giulia Spina, Marco Roversi, Cristina Mascolo, Elisabetta Pentimalli, Marialuisa Corbeddu, Andrea Diociaiuti, Maya El Hachem, Alberto Villani
Differential humanistic and economic burden of mild, moderate and severe haemophilia in european adults: a regression analysis of the CHESS II study
Idaira Rodriguez-Santana, Pronabesh DasMahapatra, Tom Burke, Zalmai Hakimi, José Bartelt-Hofer, Jameel Nazir, Jamie O’Hara
Health-related quality of life, direct medical and societal costs among children with moderate or severe haemophilia in Europe: multivariable models of the CHESS-PAEDs study
Idaira Rodriguez-Santana, Pronabesh DasMahapatra, Tom Burke, Zalmai Hakimi, José Bartelt-Hofer, Jameel Nazir, Jamie O’Hara
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8
Haiming Yuan, Qingming Wang, Xiumei Zeng, Peiqing He, Wanfang Xu, Hongmei Guo, Yanhui Liu, Yangyang Lin
Clinical features and treatment outcomes of pediatric Langerhans cell histiocytosis with macrophage activation syndrome-hemophagocytic lymphohistiocytosis
Dong Wang, Xi-Hua Chen, Ang Wei, Chun-Ju Zhou, Xue Zhang, Hong-Hao Ma, Hong-Yun Lian, Li Zhang, Qing Zhang, Xiao-Tong Huang, Chan-Juan Wang, Ying Yang, Wei Liu, Tian-You Wang, Zhi-Gang Li, Lei Cui, Rui Zhang
Refractory serositis in Gorham–Stout syndrome
Hong Di, Bingqing Zhang, Na Xu, Yue Yin, Xinxin Han, Yun Zhang, Xuejun Zeng
Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases
Rosanne M. Smits, Eline Vissers, Rosan te Pas, Noor Roebbers, Wout F. J. Feitz, Iris A. L. M. van Rooij, Ivo de Blaauw, Chris M. Verhaak
Haemophilia gene therapy: experiences and lessons from treated patients
Cedric Hermans
The experiences of people with haemophilia and their families of gene therapy in a clinical trial setting: regaining control, the Exigency study
Simon Fletcher, Kathryn Jenner, Luke Pembroke, Michael Holland, Kate Khair
Dose-finding studies in drug development for rare genetic diseases
Lingshan Wang, Jie Wang, Ji Feng, Mary Doi, Salvatore Pepe, Michael Pacanowski, Robert N. Schuck
Assessing the value of orphan drugs using conventional cost-effectiveness analysis: Is it fit for purpose?
Maarten J. Postma, Declan Noone, Mark H. Rozenbaum, John A. Carter, Marc F. Botteman, Elisabeth Fenwick, Louis P. Garrison
Novel computer aided diagnostic models on multimodality medical images to differentiate well differentiated liposarcomas from lipomas approached by deep learning methods
Yuhan Yang, Yin Zhou, Chen Zhou, Xuelei Ma
Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives
Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo, Paolo Ventura
Health utilities and costs for neuromyelitis optica spectrum disorder
Dyfrig A. Hughes, Siobhan Bourke, Angela Jones, Rikesh Bhatt, Saif Huda, Kerry Mutch, Anu Jacob
Designing rare disease care pathways in the Republic of Ireland: a co-operative model
A. J. Ward, D. Murphy, R. Marron, V. McGrath, M. Bolz-Johnson, W. Cullen, A. Daly, O. Hardiman, A. Lawlor, S. A. Lynch, M. MacLachlan, J. McBrien, S. Ni Bhriain, J. J. O’Byrne, S. M. O’Connell, J. Turner, E. P. Treacy
Fulfillment status of hypertriglyceridemia and hypofibrinogenemia in children with hemophagocytic lymphohistiocytosis and risks of multiple organ dysfunction syndrome and early mortality
Xun Li, Haipeng Yan, Ting Luo, Zhenghui Xiao, Ling Gong, Jiaotian Huang, Xinping Zhang, Mincui Zheng, Zhenya Yao, Ping Zang, Desheng Zhu, Xiulan Lu
The national economic burden of rare disease in the United States in 2019
Grace Yang, Inna Cintina, Anne Pariser, Elisabeth Oehrlein, Jamie Sullivan, Annie Kennedy
Clinical characteristics of multicentric reticulohistiocytosis and distinguished features from rheumatoid arthritis: a single-center experience in China
Xiao-juan Zou, Lin Qiao, Feng Li, Hua Chen, Yun-jiao Yang, Dong Xu, Wen-Jie Zheng, Zhen-yu Jiang, Li Wang, Qing-jun Wu, Feng-Chun Zhang
Consequences of rare diagnoses for education and daily life: development of an observation instrument
Gunilla Jaeger, AnnCatrin Röjvik, Erland Hjelmquist, André Hansla, Kerstin W. Falkman
Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project
Huayu Zhang, Johan H. Thygesen, Ting Shi, Georgios V. Gkoutos, Harry Hemingway, Bruce Guthrie, Honghan Wu
The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review
Christina Q. Nguyen, Kristine Alba-Concepcion, Elizabeth E. Palmer, Jackie L. Scully, Nicole Millis, Michelle A. Farrar
Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective
Robert J. Pignolo, Christopher Bedford-Gay, Amanda Cali, Michelle Davis, Patricia L. R. Delai, Kristi Gonzales, Candace Hixson, Alastair Kent, Hope Newport, Manuel Robert, Christiaan Scott, Frederick S. Kaplan
Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani, Franco Antoniazzi
Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study
Holly Walton, Amy Simpson, Angus I. G. Ramsay, Emma Hudson, Amy Hunter, Jennifer Jones, Pei Li Ng, Kerry Leeson-Beevers, Lara Bloom, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Alastair G. Sutcliffe, Stephen Morris, Naomi J. Fulop
Gastrointestinal Kohlmeier–Degos disease: a narrative review
Samantha S. Sattler, Cynthia M. Magro, Lee Shapiro, Jamie F. Merves, Rebecca Levy, Jesse Veenstra, Puraj Patel
Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome
Christopher A. Ours, Mia B. Hodges, Neal Oden, Julie C. Sapp, Leslie G. Biesecker
Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review
Hélène Warnier, Christophe Barrea, Sarah Bethlen, Isabelle Schrouff, Julie Harvengt
The research output of rod-cone dystrophy genetics
Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz, Said El Shamieh
Small fiber involvement is independent from clinical pain in late-onset Pompe disease
Elena K. Enax-Krumova, Iris Dahlhaus, Jonas Görlach, Kristl G. Claeys, Federica Montagnese, llka Schneider, Dietrich Sturm, Tanja Fangerau, Hannah Schlierbach, Angela Roth, Julia V. Wanschitz, Wolfgang N. Löscher, Anne-Katrin Güttsches, Stefan Vielhaber, Rebecca Hasseli, Lea Zunk, Heidrun H. Krämer, Andreas Hahn, Benedikt Schoser, Angela Rosenbohm, Anne Schänzer
Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN
Anindita Ray, Esita Chattopadhyay, Richa Singh, Saurabh Ghosh, Arnab Bera, Mridul Sarma, Mahavir Munot, Unnati Desai, Sujeet Rajan, Pralhad Prabhudesai, Ashish K. Prakash, Sushmita Roy Chowdhury, Niladri Bhowmick, Raja Dhar, Zarir F. Udwadia, Atin Dey, Subhra Mitra, Jyotsna M. Joshi, Arindam Maitra, Bidyut Roy
Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)
F. M. van Haalen, M. Kaya, I. C. M. Pelsma, O. M. Dekkers, N. R. Biermasz, S. C. Cannegieter, M. V. Huisman, B. J. M. van Vlijmen, R. A. Feelders, F. A. Klok, A. M. Pereira, K. Stochholm, E. Fliers, F. Castinetti, T. Brue, J. Bertherat, C. Scaroni, A. Colao, R. Giordano, M. R. Druce, A. Beckers, J. Spranger, N. Driessens, D. Maiter, U. Feldt-Rasmussen, R. Feelders, S. M. Webb, M. Dattani, E. Husebye, B. Zilaitiene, S. Gaztambide, F. Gatto, D. Ferone, L. Persani, I. Chiodini, C. Höybye, A. M. Pereira, N. R. Biermasz, F. A. Klok, O. M. Dekkers, O. C. Meijer, M. Reincke, G. Vila, C. Perry, A. Heck, M. R. Stancampiano, A. van de Ven, G. Johannsson, O. Ragnarsson, M. Tóth, V. Volke, M. Toumba, L. Canu, J. Vojtková, M. Al-Mrayat, M. Fassnacht, M. Detomas, N. Karavitaki, M. M. van der Klauw, U. Groselj, A. Elenkova, D. Unuane
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz
Correction: Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study
Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, Mette Christophersen Tollånes
The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis
Enrico Costa, Silvia Girotti, Francesca Pauro, Hubert G. M. Leufkens, Marco Cipolli
Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study
Saku Pelttari, Suvi Väärämäki, Olivier Vanakker, Shana Verschuere, Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Pörsti, Pasi I. Nevalainen
Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles
Kelley M. Kidwell, Satrajit Roychoudhury, Barbara Wendelberger, John Scott, Tara Moroz, Shaoming Yin, Madhurima Majumder, John Zhong, Raymond A. Huml, Veronica Miller
Do patients with Prader–Willi syndrome have favorable glucose metabolism?
Yanjie Qian, Fangling Xia, Yiming Zuo, Mianling Zhong, Lili Yang, Yonghui Jiang, Chaochun Zou
Key measurement concepts and appropriate clinical outcome assessments in pediatric achondroplasia clinical trials
Natalie V. J. Aldhouse, Helen Kitchen, Chloe Johnson, Chris Marshall, Hannah Pegram, Sheryl Pease, Sam Collins, Christine L. Baker, Katherine Beaverson, Chandler Crews, Jill Massey, Kathleen W. Wyrwich
Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients
Galliano Zanello, Chun-Hung Chan, David A. Pearce
Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality
Jia Chen, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye, Yubi Lin
Beyond the clinical context: the process of losing oneself living with Huntington’s disease
Luz-Estella Varela, María-Mercedes Arias, María-Antonia Martorell-Poveda, Clara V. Giraldo, Rosa A. Estrada-Acuña
Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach
Lara Rodríguez-Laguna, Kristen Davis, Mellenee Finger, Dawn Aubel, Robin Vlamis, Craig Johnson
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries
Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu, Anna Tylki-Szymańska, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe
Unlocking sociocultural and community factors for the global adoption of genomic medicine
Lynsey Chediak, Nicola Bedlington, Ayesha Gadson, Alastair Kent, Aiedah Abdul Khalek, Luke Rosen, Malisa Rust, Mohd. Farooq Shaikh, Meng Yoe Tan, Samuel Agyei Wiafe, Gareth Baynam, Charles A. Steward
Annual prevalence estimation of lymphatic malformation with a cutaneous component: observational study of a national representative sample of physicians
Jack Ray Gallagher, J. Martini, S. Carroll, A. Small, J. Teng
“Why them, why me, why us?” The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study
S. Hassall, D. M. Smith, S. Rust, S. A. Jones, A. Wittkowski
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre
Rebecca K. Halligan, R. Neil Dalton, Charles Turner, Katherine A. Lewis, Helen R. Mundy
Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases
Gaspar Del Rio-Pertuz, Cristina Morataya, Kanak Parmar, Sarah Dubay, Erwin Argueta-Sosa
Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases
Kathleen Bogart, Amanda Hemmesch, Erica Barnes, Thomas Blissenbach, Arthur Beisang, Patti Engel, Jakub Tolar, Tim Schacker, Lisa Schimmenti, Nicole Brown, Kelly Morrison, Tony Albright, Matt Klein, Julia Coleman, Karl Nelsen, Rae Blaylark, Karri LaFond, Sheldon Berkowitz, Kris Ann Schultz, Kerry Hansen, Soraya Beiraghi, Barbara Joers, David Tilstra, Amy Gaviglio, Lee A. Jones, Abigail Miller, Jackie Foster
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis
Afraah Cassim, Dineshani Hettiarachchi, Vajira H. W. Dissanayake
The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology
K. Savostyanov, A. Pushkov, I. Zhanin, N. Mazanova, S. Trufanov, A. Pakhomov, A. Alexeeva, D. Sladkov, A. Asanov, A. Fisenko
A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives
Gaik Siew Ch’ng, Karina Koh, Azlina Ahmad-Annuar, Fahisham Taib, Cha Ling Koh, Edmund Soon Chin Lim
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study
Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao, Pascale de Lonlay
Tranilast for advanced heart failure in patients with muscular dystrophy: a single-arm, open-label, multicenter study
Tsuyoshi Matsumura, Hiroya Hashimoto, Masahiro Sekimizu, Akiko M. Saito, Yasufumi Motoyoshi, Akinori Nakamura, Satoshi Kuru, Takayasu Fukudome, Kazuhiko Segawa, Toshiaki Takahashi, Takuhisa Tamura, Tetsuo Komori, Chigusa Watanabe, Masanori Asakura, Koichi Kimura, Yuko Iwata
Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China
Guofeng Zhang, Jinli Liu, Yushuo Wang, Yue Wang, Xianliang Jiang, Yan Peng, Jun Xiao, Wei Wei, Bing Shen, Long Yi, Jay H. Ryu, Xiaowen Hu
UPRmt activation improves pathological alterations in cellular models of mitochondrial diseases
Juan M. Suárez-Rivero, Carmen J. Pastor-Maldonado, Suleva Povea-Cabello, Mónica Álvarez-Córdoba, Irene Villalón-García, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Diana Reche-López, Paula Cilleros-Holgado, Rocío Piñero-Perez, José A. Sánchez-Alcázar
Correction to: Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families
Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall, Paul S. Thornton
Different electrophysiology patterns in GNE myopathy
Xiangyi Liu, Yingshuang Zhang, Shuo Zhang, Aping Sun, Danfeng Zheng, Dongsheng Fan, Xiaoxuan Liu
Transition to adult care of young patients with neurofibromatosis type 1 and cognitive deficits: a single-centre study
S. Lausdahl, M. M. Handrup, S. L. Rubak, M. D. Jensen, C. Ejerskov
Factors of family impact in a Swedish–German cohort of children born with esophageal atresia
Michaela Dellenmark-Blom, Kate Abrahamsson, Jens Dingemann, Stefanie Witt, Carmen Dingemann, Linus Jönsson, Vladimir Gatzinsky, Monika Bullinger, Benno M. Ure, John E. Chaplin, Julia H. Quitmann
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients
Defu Lin, Huakang Du, Sen Zhao, Bowen Liu, Hongcheng Song, Guannan Wang, Weiping Zhang, Haiyan Liang, Pei Liu, Chao Liu, Wenwen Han, Zhenwu Li, Yang Yang, Shuofan Chen, Lina Zhao, Xiaoxin Li, Zhihong Wu, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Nan Wu, Shengru Wang, Jiaqi Liu, Sen Liu, Yuzhi Zuo, Gang Liu, Chenxi Yu, Lian Liu, Jiashen Shao, Sen Zhao, Zihui Yan, Hengqiang Zhao, Yuchen Niu, Xiaoxin Li, Huizi Wang, Congcong Ma, Zefu Chen, Bowen Liu, Xi Cheng, Jiachen Lin, Huakang Du, Yaqi Li, Shuang Song, Weijie Tian, Zhixin Xie, Zhengye Zhao, Lina Zhao, Zhi Zhao, Zhifa Zheng, Yingzhao Huang, Ning Sun, Nan Wu
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, Jan De Bleecker, Patrick Santens, Paul Boon, Guy Laureys, Tessa Kerre
Poor education and urgent information need for emergency physicians about rare diseases in China
Lingli Zhou, Jun Xu, Jing Yang
Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers’ experiences and perceptions
Gry Velvin, Thale Hartman, Trine Bathen
Diagnostic value of congenital pulmonary airway malformation volume ratio for fetal hydrops due to congenital lung malformations: a systematic review and meta-analysis
Pei Zhu, Kaisheng Cheng, Mingsheng He, Yutong Wang, Pengyue Shen, Kanglin He, Chang Xu, Ben Zhang, Zhenmi Liu
Clinical and genetic spectrum of 14 cases of NLRP3-associated autoinflammatory disease (NLRP3-AID) in China and a review of the literature
Yu Zhou, Wei Wang, Linqing Zhong, Lin Wang, Mingsheng Ma, Xiaoyan Tang, Zhuo Li, Changyan Wang, Lijuan Gou, Tiannan Zhang, Hongmei Song
Real-world clinicopathological features and outcome of thymic neuroendocrine tumors: a retrospective single-institution analysis
Yeye Chen, Jiaqi Zhang, Mengxin Zhou, Chao Guo, Shanqing Li
Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis
Wei Zhang, Yanmeng Li, Anjian Xu, Qin Ouyang, Liyan Wu, Donghu Zhou, Lina Wu, Bei Zhang, Xinyan Zhao, Yu Wang, Xiaoming Wang, Weijia Duan, Qianyi Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia
AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives
Allison R. Hanaford, Yoon-Jae Cho, Hiroyuki Nakai
Health technology assessment and price negotiation alignment for rare disorder drugs in Canada: Who benefits?
Nigel S. B. Rawson
Analysis of 55 patients with multiple endocrine neoplasia type 1-associated insulinoma from a single center in China
Yuan Zhao, Jie Yu, Yiwen Liu, Lu Lyu, Fan Ping, Lingling Xu, Wei Li, Ou Wang, Qiang Xu, Wenming Wu, Huabing Zhang, Yuxiu Li
A lack of race and ethnicity data in the treatment of hereditary hemorrhagic telangiectasia: a systematic review of intravenous bevacizumab efficacy
Panagis Galiatsatos, Cheri Wilson, Jaime O’Brien, Anna J. Gong, Dylan Angiolillo, James Johnson, Carlie Myers, Sara Strout, Stephen Mathai, Gina Robinson, Nicholas R. Rowan, Clifford R. Weiss
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry
Senay Rueda-Nieto, Pedro Mondejar-Lopez, María-Pilar Mira-Escolano, Ana Cutillas-Tolín, Luis Alberto Maceda-Roldán, Julián Jesús Arense-Gonzalo, Joaquín A. Palomar-Rodríguez
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui, Zou Chao-Chun, Shan Xiao-Ou, Yang Yu, Zhang Hui-Feng, Tian Zhi-Liang, Sun Bo, Lu Mei, Cheng Ya-Ying, Yang Ying, Yu Xiong-Ying, Zhang Jing, Chen Xiao-Hong, Yang Fan, Ma Hong-Wei, MireguIi Maimaiti, Zhang Gai-Xiu, Chen Xiao-Hong, Li Gui-Mie, Tong Fan, Zhi Ming-Qiang, Zhou Qiong, Gao Yuan, Wang Kan, Ying Xiao-Ming, Zhang Jian-Ping, Wang Chun-Lin, Jiang Chun-Ming, Xiao Rui
An update on choroidal abnormalities and retinal microvascular changes in neurofibromatosis type 1
Fabiana Mallone, Luca Lucchino, Sandra Giustini, Alessandro Lambiase, Antonietta Moramarco
Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study
Ravi Savarirayan, Wagner Baratela, Thomas Butt, Valérie Cormier-Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright, Svein O. Fredwall
Identification of ER/SR resident proteins as biomarkers for ER/SR calcium depletion in skeletal muscle cells
Lacey K. Greer, Katherine G. Meilleur, Brandon K. Harvey, Emily S. Wires
Lifetime extension and the recent cause of death in Werner syndrome: a retrospective study from 2011 to 2020
Hisaya Kato, Masaya Koshizaka, Hiyori Kaneko, Yoshiro Maezawa, Koutaro Yokote
The health-related quality of life, mental health and mental illnesses of patients with inclusion body myositis (IBM): results of a mixed methods systematic review
Katja C. Senn, Laura Gumbert, Simone Thiele, Sabine Krause, Maggie C. Walter, Klaus H. Nagels
Development and pilot implementation of Iranian Hemolytic Uremic Syndrome Registry
Mina Lazem, Nakysa Hooman, Abbas Sheikhtaheri
A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic
Martin Pesl, Hana Verescakova, Linda Skutkova, Jana Strenkova, Pavel Krejci
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré
Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis
Emma Hector, Donald Cairns, G. Michael Wall
The symptom experience of hereditary angioedema (HAE) patients beyond HAE attacks: literature review and clinician interviews
Milenka Jean-Baptiste, Robbin Itzler, Subhransu Prusty, Dylan Supina, Mona L. Martin
The diagnostic odyssey: insights from parents of children living with an undiagnosed condition
Alicia Bauskis, Cecily Strange, Caron Molster, Colleen Fisher
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease
Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report
Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali , Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update
Angela Dispenzieri, Teresa Coelho, Isabel Conceição, Márcia Waddington-Cruz, Jonas Wixner, Arnt V. Kristen, Claudio Rapezzi, Violaine Planté-Bordeneuve, Juan Gonzalez-Moreno, Mathew S. Maurer, Martha Grogan, Doug Chapman, Leslie Amass, Pablo Garcia Pavia, Ivaylo Tarnev, Jose Gonzalez Costello, Maria Alejandra Gonzalez Duarte Briseno, Hartmut Schmidt, Brian Drachman, Fabio Adrian Barroso, Taro Yamashita, Olivier Lairez, Yoshiki Sekijima, Giuseppe Vita, Eun-Seok Jeon, Mazen Hanna, David Slosky, Marco Luigetti, Samantha LoRusso, Francisco Munoz Beamud, David Adams, Henning Moelgaard, Rayomand Press, Calogero Lino Cirami, Hans Nienhuis, Josep Maria Campistol Plana, Jocelyn Inamo, Daniel Jacoby, Michele Emdin, Dianna Quan, Scott Hummel, Ronald Witteles, Amir Dori, Sanjiv Shah, Daniel Lenihan, Olga Azevedo, Srinivas Murali, Sasa Zivkovic, Soon Chai Low, Jose Nativi-Nicolau, Nowell Fine, Jose Tallaj, Carsten Tschoepe, Roberto Fernandéz Torrón, Michael Polydefkis, Giampaolo Merlini, Sorina Badelita, Stephen Gottlieb, James Tauras, Edileide Barros Correia, Hector Ventura, Burkhard Gess, Felix Darstein, Jeeyoung Oh, Tessa Marburger, Johan Van Cleemput, Valeria Lujan Salutto, Yesim Parman, Chi-Chao Chao, Nitasha Sarswat, Christopher Mueller, David Steidley, Jeffrey Ralph, Alberta Warner, William Cotts, James Hoffman, Marcelo Rugiero, Sonoko Misawa, Jose Luis Munoz Blanco, Lucia Galan Davila, Menachem Sadeh, Jin Luo, Theodoros Kyriakides, Annabel Wang, Horacio Kaufmann, Sasa Zivkovic
What role can decentralized trial designs play to improve rare disease studies?
J. Moore, N. Goodson, P. Wicks, J. Reites
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A. Hughes, Christoph Kampmann, Atul B. Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L. West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani
Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease
Xuantong Dai, Xue Zong, Xiaoxia Pan, Wei Lu, Geng-Ru Jiang, Fujun Lin
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI
Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici, Arianna Maiorana
Postoperative morbidity and health-related quality of life in children with delayed reconstruction of esophageal atresia: a nationwide Swedish study
Michaela Dellenmark-Blom, Sofie Örnö Ax, Elin Öst, Jan F. Svensson, Ann-Marie Kassa, Linus Jönsson, Kate Abrahamsson, Vladimir Gatzinsky, Pernilla Stenström, AnnaMaria Tollne, Erik Omling, Helene Engstrand Lilja
Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study
S. Legoupil, D. Bessis, F. Picard, S. Mallet, J. Mazereeuw, A. Phan, D. Dupin-Deguine, M. Kalamarides, C. Chiaverini
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature
Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta, Pilar Rodríguez-Pombo
Dissociation of early and late face-related processes in autism spectrum disorder and Williams syndrome
Alice Gomez, Guillaume Lio, Manuela Costa, Angela Sirigu, Caroline Demily
Analysis of risk factors affecting union and refracture after combined surgery for congenital pseudarthrosis of the tibia: a retrospective study of 255 cases
Zhuoyang Li, Hui Yu, Yiyong Huang, Yaoxi Liu, Guanghui Zhu, Qian Tan, Haibo Mei, Ge Yang
Lombardy diagnostic and therapeutic network of thrombotic microangiopathy
I. Mancini, P. Agosti, M. Boscarino, B. Ferrari, A. Artoni, R. Palla, M. Spreafico, G. Crovetti, E. Volpato, S. Rossini, C. Novelli, S. Gattillo, L. Barcella, M. Salmoiraghi, A. Falanga, F. Peyvandi, Flora Peyvandi, Andrea Artoni, Barbara Ferrari, Roberta Palla, Ilaria Mancini, Pasquale Agosti, Marta Spreafico, Giovanni Crovetti, Elisabetta Volpato, Silvano Rossini, Anna Falanga, Laura Russo, Luca Barcella, Salvatore Gattillo, Chiara Novelli, Enrico Capuzzo, Marco D’Agostino, Porcari Moreno, Inzoli Alessandro, Pagani Ambrogio
Identification of a novel splicing mutation and genotype–phenotype correlations in rare PLS3-related childhood-onset osteoporosis
Zhichong Wu, Zhenhua Feng, Xiufen Zhu, Zhicheng Dai, Kaixing Min, Yong Qiu, Long Yi, Leilei Xu, Zezhang Zhu
Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome
Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russell T. Shinohara, Ravinder Reddy, Kathryn A. Davis, Diva D. De León
Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations
Peikai Chen, Zhijia Tan, Anmei Qiu, Shijie Yin, Yapeng Zhou, Zhongxin Dong, Yan Qiu, Jichun Xu, Kangsen Li, Lina Dong, Hiu Tung Shek, Jingwen Liu, Eric H. K. Yeung, Bo Gao, Kenneth Man Chee Cheung, Michael Kai-Tsun To
COVID-19 in Fabry disease: a reference center prospective study
Christina Bothou, Lanja Saleh, Arnold von Eckardstein, Felix Beuschlein, Albina Nowak
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study
Simona Sestito, Giada Rinninella, Angelica Rampazzo, Francesca D’Avanzo, Lucia Zampini, Lucia Santoro, Orazio Gabrielli, Agata Fiumara, Rita Barone, Nicola Volpi, Maurizio Scarpa, Rosella Tomanin, Daniela Concolino
The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex: data from the Dutch TSC registry
Femke V. M. Mulder, Evelien F. H. I. Peeters, Jan Westerink, Fried J. T. Zwartkruis, Wendela L. de Ranitz-Greven
Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants
Wenli Wang, Fengying Lu, Bin Zhang, Qin Zhou, Yingping Chen, Bin Yu
Clinical profile and demographic characteristics of moderate and severe hemophilia patients in a tertiary care hospital of Bangladesh
Mohammed Nadimul Islam, Akhil Ranjon Biswas, Humayra Nazneen, Nobendu Chowdhury, Mahbubul Alam, Jayanta Banik, Md. Kamrul Hassan, Abdullah Az Zubayer Khan, Najmul Karim, Mohammad Jahid Hasan, Md. Abdullah Saeed Khan
Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review
R. Gnasso, B. Corrado, I. Iommazzo, F. Migliore, G. Magliulo, B. Giardulli, C. Ruosi
Obstacles to home-based dietary management for caregivers of children with citrin deficiency: a qualitative study
Shuxian Zhang, Yun Du, Lingli Cai, Meixue Chen, Yuanzong Song, Lilan He, Ni Gong, Qingran Lin
HTA decision-making for drugs for rare diseases: comparison of processes across countries
Tania Stafinski, Judith Glennie, Andrea Young, Devidas Menon
Sirolimus reduces the risk of pneumothorax recurrence in patients with lymphangioleiomyomatosis: a historical prospective self-controlled study
Chongsheng Cheng, Wenshuai Xu, Yani Wang, Tengyue Zhang, Luning Yang, Wangji Zhou, Danjing Hu, Yanli Yang, Xinlun Tian, Kai-Feng Xu
An observational, non-interventional study for the follow-up of patients with amyloidosis who received miridesap followed by dezamizumab in a phase 1 study
Duncan Richards, Helen Millns, Louise Cookson, Mary Ann Lukas
Correction: Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019
Sarah J. Howe, David Lapidus, Michael Hull, Jason Yeaw, Tanya Stevenson, Jacinda B. Sampson
Clinical manifestation, economic burden, and mortality in patients with transthyretin cardiac amyloidosis
Suk-Chan Jang, Jin Hyun Nam, Seung-Ah Lee, Dasom An, Hye-Lin Kim, Sun-Hong Kwon, Eui-Kyung Lee
A conceptual disease model for quality of life in mitochondrial disease
Kim F. E. van de Loo, Nander T. van Zeijl, José A. E. Custers, Mirian C. H. Janssen, Christianne M. Verhaak
Impact of a digital manual for guidance on malignant hyperthermia: patient education
Gislene Rodrigues, Pamela Vieira de Andrade, Joilson Moura dos Santos, José Luiz Gomes do Amaral, Helga Cristina Almeida da Silva
Burden associated with Fabry disease and its treatment in 12–15 year olds: results from a European survey
Lisa Bashorum, Gerard McCaughey, Owen Evans, Ashley C. Humphries, Richard Perry, Alasdair MacCulloch
The association between vitamin D levels and oxidative stress markers in Egyptian Behcet’s disease patients
Heba S. Omar, Fatma Mohamed Taha, Suzanne Fouad, Fatma A. Ibrahim, Aliaa El Gendy, Iman H. Bassyouni, Reem El-Shazly
Seminal plasma metabolomics and lipidomics profiling to identify signatures of pituitary stalk interruption syndrome
Ye Guo, Xiaogang Li, Xi Wang, Haolong Li, Guoju Luo, Yongzhen Si, Xueyan Wu, Yongzhe Li
Langerhans cell histiocytosis in adolescent patients: a single-centre retrospective study
Hua-cong Cai, Jia Chen, Ting Liu, Hao Cai, Ming-hui Duan, Jian Li, Dao-bin Zhou, Xin-xin Cao
A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex
Jodi Y. So, Shivali Fulchand, Christine Y. Wong, Shufeng Li, Jaron Nazaroff, Emily S. Gorell, Mark P. de Souza, Dedee F. Murrell, Joyce M. Teng, Albert S. Chiou, Jean Y. Tang
New developments in the molecular treatment of ichthyosis: review of the literature
M. D. W. Joosten, J. M. K. Clabbers, N. Jonca, J. Mazereeuw-Hautier, A. H. Gostyński
Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives
Bryan A. Sisk, Anna Kerr, Katherine A. King
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy
Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith, Virginia Kimonis
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)
Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim, Christopher K. Zalewski, Kelly A. King, Maximillian M. Delsmann, Tim Rolvien, Rachel I. Gafni, Demetrios T. Braddock, H. Jeffrey Kim, Carlos R. Ferreira
Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs
Maja Brandt, Lene Johannsen, Laura Inhestern, Corinna Bergelt
RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
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Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer, Tim Hagenacker
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry
Kathryn M. Dahir, Lothar Seefried, Priya S. Kishnani, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos-Moreno, Keiichi Ozono, Shona Fang, Cheryl Rockman-Greenberg
Global epidemiology of amyloid light-chain amyloidosis
Nishant Kumar, Nicole J. Zhang, Dasha Cherepanov, Dorothy Romanus, Michael Hughes, Douglas V. Faller
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Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr
Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan
Yuta Koto, Aya Narita, Shinichi Noto, Midori Ono, Anna Lissa Hamada, Norio Sakai
Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT
Thi Thao Truc Le, Guillaume Martinent, Sophie Dupuis-Girod, Antoine Parrot, Anne Contis, Sophie Riviere, Thierry Chinet, Vincent Grobost, Olivier Espitia, Brigitte Dussardier-Gilbert, Laurent Alric, Guillaume Armengol, Hélène Maillard, Vanessa Leguy-Seguin, Sylvie Leroy, Murielle Rondeau-Lutz, Christian Lavigne, Shirine Mohamed, Laurent Chaussavoine, Pascal Magro, Julie Seguier, Mallorie Kerjouan, Sylvie Fourdrinoy
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia
Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak, Olga Haus
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review
Bo Peng, Yong-hua Gao, Jia-qi Xie, Xiao-wen He, Cong-cong Wang, Jin-fu Xu, Guo-jun Zhang
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici, Arianna Maiorana
International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts
Simona Korff, Khaled Mostaguir, Maurice Beghetti, Lorenzo D’Antiga, Dominique Debray, Stéphanie Franchi-Abella, Emmanuel Gonzales, Florent Guerin, Anne-Lise Hachulla, Virginie Lambert, Periklis Makrythanasis, Nicolas Roduit, Laurent Savale, Marie-Victoire Senat, Joël Spaltenstein, Frank van Steenbeek, Barbara E. Wildhaber, Marcel Zwahlen, Valérie A. McLin
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Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro
Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature
Julia B. Hennermann, Eva M. Raebel, Francesca Donà, Marie-Line Jacquemont, Graziella Cefalo, Andrea Ballabeni, Dag Malm
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China
Cong Luo, Ye Zhang, Yu-shi Zhang, Ming-Xin Zhang, Jun Ning, Min-Feng Chen, Yuan Li, Lin Qi, Xiong-Bing Zu, Yang-Le Li, Yi Cai
Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease
Matthias Griese, Matthias Kappler, Florian Stehling, Johannes Schulze, Winfried Baden, Cordula Koerner-Rettberg, Julia Carlens, Freerk Prenzel, Lutz Nährlich, Andreas Thalmeier, Daniela Sebah, Kai Kronfeld, Hans Rock, Christian Ruckes, Margarete Olivier, Stefan Zielen, Azadeh Bagheri-Potthof, Ulrich Thome, Julia Gebhardt, Anna Mehl, Susanne Gabriele Lau, Utz Philipp, Matthias Kopp, Guido Stichtenoth, Olaf Sommerburg, Mirjam Stahl, Richard Kitz, Christoph Rietschel, Philippe Stock, Frank Ahrens, Helge Hebestreit, Florian Segerer, Folke Brinkmann, Schlegtendal Anne, Claudia Eismann, Dörthe Neuner, Sabine Witt, Meike Hengst, Maria Feilcke, Jürgen Babl, Gabriele Stauffer, Tanja Nickolay, Stanislav Gorbulev, Gisela Anthony, Linda Stöhr, Laura Vieweg, Anke Strenge-Hesse, Martin Wetzke, Elias Seidl, Nicolaus Schwerk
Clusters of clinical and immunologic features in patients with bullous systemic lupus erythematosus: experience from a single-center cohort study in China
Lin Qiao, Bingjie Zhang, Wenjie Zheng, Mengtao Li, Yan Zhao, Xiaofeng Zeng, Fengchun Zhang, Li Wang, Li Li
Autophagy-lysosome pathway alteration in ocular surface manifestations in Fabry disease patients
Marco Marenco, Marco Segatto, Marta Sacchetti, Pietro Mangiantini, Francesca Giovannetti, Rocco Plateroti
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review
Bijun Sun, Mi Yang, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Haili Yao, Jinqiao Sun, Xiaochuan Wang
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran, Silvio Boero, Svein Fredwall, Catherine Garel, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Sérgio B. Sousa, Klaus Mohnike
Current status and trend of clinical development of orphan drugs in China
Ziling Xiang, Wengao Jiang, Bo Yan, Junhao Jiang, Hang Zheng
Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndrome
Tobias Jürgen Schmidt, Julia Sellin, Gerhard J. Molderings, Rupert Conrad, Martin Mücke
Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study
Ya-Ting Jan, Pei-Shan Tsai, Wen-Hui Huang, Shih-Chieh Huang, Yu-Peng Liu, She-Meng Cheng, Kun-Shuo Huang
Use of the bibliometric in rare diseases: taking Wilson disease personally
Lin Chen, Zhuoqi Lou, Yangxin Fang, Liya Pan, Jianhua Zhao, Yifan Zeng, Ying Wang, Nan Wang, Bing Ruan
Health-related quality of life of X-linked hypophosphatemia in Spain
M. I. Luis Yanes, M. Diaz-Curiel, P. Peris, C. Vicente, S. Marin, M. Ramon-Krauel, J. Hernandez, J. J. Broseta, L. Espinosa, S. Mendizabal, L. Perez-Sukia, V. Martínez, C. Palazón, J. A. Piñero, M. A. Calleja, J. Espin, R. Arborio-Pinel, G. Ariceta
Lifecycle management of orphan drugs approved in Japan
Kiyoshi Seki, Hiroshi Suzuki, Seiji Abe, Chikako Saotome
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
Claude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, Renata S. Scalco, Basil T. Darras, Katia Alberti, Giovanni Baranello, Nina Barisic, Noemi Brolatti, Claudio Bruno, Claude Cances, Giacomo Pietro Comi, Basil T. Darras, Nicolas Deconinck, Elke Vos, Liesbeth De Waele, Angela Dodman, Claudia Dosi, Muna El-Khairi, Amanda Engelbrekt, Nathalie Goemans, Ksenija Gorni, Alessandra Govoni, Isaac Gravestock, Kazuhiro Haginoya, Janine Hoffart, Katarzyna Kotulska-Jozwiak, Laure Le Goff, Alexis Levine, Saidi Manel, Riccardo Masson, Chiara Mastella, Eleonora Mauri, Maria Mazurkiewicz-Bełdzińska, Megi Meneri, Isabella Moroni, Katarzyna Pierzchlewicz, Aurelie Portefaix, Alexandra Prufer, Myriam Rauso, Kayoko Saito, Renata S. Scalco, Veronica Schembri, Mariangela Sicolo, Valentine Tahon, Josipa Tomas, Dominique Vincent-Genod, Dmitry Vlodavets, Carole Vuillerot, Kazuyuki Yotsumata, Edmar Zanoteli
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia
Kathrin S. Utz, Zacharias Kohl, Dominique Cornelius Marterstock, Arnd Doerfler, Jürgen Winkler, Manuel Schmidt, Martin Regensburger
Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies
A. L. S. Pessoa, A. M. Martins, E. M. Ribeiro, N. Specola, A. Chiesa, D. Vilela, E. Jurecki, D. Mesojedovas, I. V. D. Schwartz
Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective
Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira, Vanessa dos Reis Ferreira
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David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire
Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3
Gabriel Santos Malave, Natalio J. Izquierdo, Nestor P. Sanchez
Fatal systemic disorder caused by biallelic variants in FARSA
Soo Yeon Kim, Saebom Ko, Hyunook Kang, Man Jin Kim, Jangsup Moon, Byung Chan Lim, Ki Joong Kim, Murim Choi, Hee-Jung Choi, Jong-Hee Chae
Clinical characteristics and therapeutic response of immunoglobulin G4-related disease: a retrospective study of 127 Chinese patients
Wen An, Zhen Wu, Min Li, Haitian Yu, Xinyan Zhao, Xiaoming Wang, Yu Wang, Qianyi Wang, Weijia Duan, Yuanyuan Kong, Hong Ma, Xiaojuan Ou, Hong You, Yanying Liu, Peng Li, Ting Duan, Jidong Jia
Incidence of thrombotic microangiopathies in Quebec: insight from a laboratory centralizing ADAMTS-13 testing
Clémence Merlen, Emmanuelle Pépin, Ousmane Barry, Anik Cormier, Caroline Dubois, Anne-Laure Lapeyraque, Stéphan Troyanov, Georges-Etienne Rivard, Arnaud Bonnefoy
Thymectomy in ocular myasthenia gravis—prognosis and risk factors analysis
Jinwei Zhang, Zeyang Zhang, Hui Zhang, Yuantao Cui, Yuan Chen, Peng Lv, Peng Zhang
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study
Julia Zibold, Bettina von Livonius, Hana Kolarova, Günter Rudolph, Claudia S. Priglinger, Thomas Klopstock, Claudia B. Catarino
Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
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Correction to: Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China
Guofeng Zhang, Jinli Liu, Yushuo Wang, Yue Wang, Xianliang Jiang, Yan Peng, Jun Xiao, Wei Wei, Bing Shen, Long Yi, Jay H. Ryu, Xiaowen Hu
Patients’ and parents’ experiences during wound care of epidermolysis bullosa from a dyadic perspective: a survey study
Petra J. Mauritz, Marieke Bolling, José C. Duipmans, Mariët Hagedoorn
A prospective short-term study to evaluate methodologies for the assessment of disease extent, impact, and wound evolution in patients with dystrophic epidermolysis bullosa
Amy S. Paller, Elena Pope, Dan Rudin, Anna Malyala, Deborah Ramsdell, Ramsey Johnson, Hal Landy, Dedee F. Murrell
Correction: Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome
Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russell T. Shinohara, Ravinder Reddy, Kathryn A. Davis, Diva D. De León
Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?
M. Pilar Bayona-Bafaluy, Ester López-Gallardo, Sonia Emperador, David Pacheu-Grau, Julio Montoya, Eduardo Ruiz-Pesini
Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method
Lisa Friedlander, Marc Vincent, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon
Optimising care and follow-up of adults with achondroplasia
Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright
Incidence of Leber hereditary optic neuropathy in 2019 in Japan: a second nationwide questionnaire survey
Fumio Takano, Kaori Ueda, Daniel A. Godefrooij, Akiko Yamagami, Hiroto Ishikawa, Hideki Chuman, Hitoshi Ishikawa, Yasuhiro Ikeda, Taiji Sakamoto, Makoto Nakamura
Electrocardiographic features of children with Duchenne muscular dystrophy
Liting Tang, Shuran Shao, Chuan Wang
Development of algorithms to identify individuals with Neurofibromatosis type 1 within administrative data and electronic medical records in Ontario, Canada
Carolina Barnett, Elisa Candido, Branson Chen, Priscila Pequeno, Patricia C. Parkin, Karen Tu
Current attitudes and preconceptions on newborn genetic screening in the Chinese reproductive-aged population
Xin Wang, Xian-Wei Guan, Yan-Yun Wang, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Yun Sun, Tao Jiang
Challenges, facilitators and barriers to the adoption and use of a web-based national IRD registry: lessons learned from the IRD-PT registry
João Pedro Marques, Sara Vaz-Pereira, José Costa, Ana Marta, José Henriques, Rufino Silva
Aripiprazole treatment for temper outbursts in Prader–Willi syndrome
Maximilian Deest, Jelte Wieting, Maximilian Michael Jakob, Stephanie Deest-Gaubatz, Adrian Groh, Johanna Seifert, Sermin Toto, Stefan Bleich, Helge Frieling, Christian K. Eberlein
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Jolanta Wierzba, Aleksander Jamsheer
Estimation of hereditary fructose intolerance prevalence in the Chinese population
Meiling Tang, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang, Zhaoqing Yin, Wenhao Zhou, Xinran Dong
Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study
Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser, Manisha Balwani
Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial
T. Conijn, C. De Roos, H. J. I. Vreugdenhil, E. M. Van Dijk-Lokkart, F. A. Wijburg, L. Haverman
An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy
Caroline Sevin, Magalie Barth, Alexandra Wilds, Abena Afriyie, Markus Walz, Annamarie Dillon, Kenneth Howie, Francis Pang
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling Yang
Galactose epimerase deficiency: lessons from the GalNet registry
Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo
Health insurance literacy and health services access barriers in Niemann–Pick disease: the patient and caregiver voice
George A. Diaz, Joslyn Crowe, Justin Hopkin
ERN CRANIO patient coverage of craniosynostosis in Europe
O. Spivack, L. Gaillard, Irene M. J. Mathijssen, Hans Delye, Eric Arnaud, Neil Bulstrode, David Johnson, Martin Evans, Chris Parks, Maria A. Poca, Ana Romance, Lars Kölby, Daniel Nowinski, Roberto Faggin, Carlo Giussani, Laura Valentini, Gianpiero Tamburrini, Ulrich-Wilhelm Thomale, Pia Vuola, Cláudia Faria, Federico Di Rocco, José Hinojosa Mena-Bernal, Lorenzo Genitori, Siegmar Reinert
Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale
Annie Ting Gee Chiu, Sheila Suet Na Wong, Naomi Wing Tung Wong, Wilfred Hing Sang Wong, Winnie Wan Yee Tso, Cheuk Wing Fung
The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence
Allison Hanaford, Simon C. Johnson
Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome
Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr, Hilary J. Vernon
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China
Xinyue He, Zhuang Tian, Hongzhi Guan, Shuyang Zhang
The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection
Cebrail Karaca, Mevlut Tamer Dincer, Seyda Gul Ozcan, Betul Sarac, Saffa Ahmadzada, Selma Alagoz, Alev Bakir, Ertugrul Kiykim, Sinan Trabulus, Nurhan Seyahi
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes
Agnieszka Różdżyńska-Świątkowska, Anna Zielińska, Anna Tylki-Szymańska
Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency
Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos
Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study
Diogo Lisbôa Basto, Gustavo de Souza Vieira, Raquel M. Andrade-Losso, Paula Nascimento Almeida, Vincent M. Riccardi, Rafaela Elvira Rozza-de-Menezes, Karin Soares Cunha
Phenotypic expression of swallowing function in Niemann–Pick disease type C1
Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse, Forbes D. Porter
Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases
Frida Kaywanga, Mohamed Zahir Alimohamed, Aneth Bella David, Daniel Maeda, Sharifa Mbarak, Togolani Mavura, Siana Nkya, Deus S. Ishengoma
Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases
Conor M. W. Douglas, Fernando Aith, Wouter Boon, Marina de Neiva Borba, Liliana Doganova, Shir Grunebaum, Rob Hagendijk, Larry Lynd, Alexandre Mallard, Faisal Ali Mohamed, Ellen Moors, Claudio Cordovil Oliveira, Florence Paterson, Vanessa Scanga, Julino Soares, Vololona Raberharisoa, Tineke Kleinhout-Vliek
A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism
Jesús Galán-Vidal, Paula G. Socuéllamos, María Baena-Nuevo, Lizbeth Contreras, Teresa González, María S. Pérez-Poyato, Carmen Valenzuela, Domingo González-Lamuño, Alberto Gandarillas
Understanding the socioeconomic costs of dystrophic epidermolysis bullosa in Europe: a costing and health-related quality of life study
A. Angelis, J. E. Mellerio, P. Kanavos
Behçet’s disease in Wales: an epidemiological description of national surveillance data
Annie Ashman, David Tucker, Ceri Williams, Llion Davies
Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks
Alessandro Rozim Zorzi, Patricia R. Delai, Henrique L. C. Rosa, Wander E. Brito, Victor A. M. Montalli, Juliana C. Napimoga, Marcelo H. Napimoga, Francisco H. Nociti Jr.
Rapamycin nanoparticles improves drug bioavailability in PLAM treatment by interstitial injection
Yahong Shi, Chuqiao Jiao, Xi Lu, Yifeng Nie, Xiang Li, Dong Han
The role of exome sequencing in childhood interstitial or diffuse lung disease
Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe
A multi-disciplinary, comprehensive approach to management of children with heterotaxy
Thomas G. Saba, Gabrielle C. Geddes, Stephanie M. Ware, David N. Schidlow, Pedro J. del Nido, Nathan S. Rubalcava, Samir K. Gadepalli, Terri Stillwell, Anne Griffiths, Laura M. Bennett Murphy, Andrew T. Barber, Margaret W. Leigh, Necia Sabin, Adam J. Shapiro
Evaluating the national system for rare diseases in China from the point of drug access: progress and challenges
Luyao Qiao, Xin Liu, Junmei Shang, Wei Zuo, Tingting Xu, Jinghan Qu, Jiandong Jiang, Bo Zhang, Shuyang Zhang
Distress and post-traumatic stress in parents of patients with congenital gastrointestinal malformations: a cross-sectional cohort study
D. Roorda, A. F. W. van der Steeg, M. van Dijk, J. P. M. Derikx, R. R. Gorter, J. Rotteveel, J. B. van Goudoever, L. W. E. van Heurn, J. Oosterlaan, L. Haverman
Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats
Andrew A. Dwyer, Melissa Uveges, Samantha Dockray, Neil Smith
Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale
Rosa Angela Fabio, Liliana Chiarini, Virginia Canegallo
Characterization and management of facial angiofibroma related to tuberous sclerosis complex in the United States: retrospective analysis of the natural history database
Sreedevi Boggarapu, Steven L. Roberds, JoAnne Nakagawa, Eric Beresford
Identifying project topics and requirements in a citizen science project in rare diseases: a participative study
Michaela Neff, Holger Storf, Jessica Vasseur, Jörg Scheidt, Thomas Zerr, Andreas Khouri, Jannik Schaaf
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
A. Muravyev, T. Vershinina, P. Tesner, G. Sjoberg, Yu. Fomicheva, N. Novák Čajbiková, A. Kozyreva, S. Zhuk, E. Mamaeva, S. Tarnovskaya, J. Jornholt, P. Sokolnikova, T. Pervunina, E. Vasichkina, T. Sejersen, A. Kostareva
Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy
Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic
Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan, Saadet Mercimek-Andrews
Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy
Mohd Salman, Anshuman Verma, Sunita Chaurasia, Deeksha Prasad, Chitra Kannabiran, Vivek Singh, Muralidhar Ramappa
Rare lysosomal disease registries: lessons learned over three decades of real-world evidence
P. K. Mistry, P. Kishnani, C. Wanner, D. Dong, J. Bender, J. L. Batista, J. Foster
Limited efficacy of tocilizumab in adult patients with secondary hemophagocytic lymphohistiocytosis: a retrospective cohort study
Ju Yeon Kim, Miso Kim, Jin Kyun Park, Eun Bong Lee, Jun Won Park, Junshik Hong
Recapitulation of pro-inflammatory signature of monocytes with ACVR1A mutation using FOP patient-derived iPSCs
Hirotsugu Maekawa, Yonghui Jin, Megumi Nishio, Shunsuke Kawai, Sanae Nagata, Takeshi Kamakura, Hiroyuki Yoshitomi, Akira Niwa, Megumu K. Saito, Shuichi Matsuda, Junya Toguchida
Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases
Sara Olivotto, Alessandra Duse, Stefania Maria Bova, Valeria Leonardi, Elia Biganzoli, Alberto Milanese, Cristina Cereda, Simona Bertoli, Roberto Previtali, Pierangelo Veggiotti
Iranian future healthcare professionals' knowledge and opinions about rare diseases: cross-sectional study
Reza Jahanshahi, Amirreza Nasirzadeh, Mahan Farzan, Jan Domaradzki, Leila Jouybari, Akram Sanagoo, Mahour Farzan, Komeil Aghazadeh-Habashi, Ahmadreza Fallah Faraghe, Sadegh Bagheri, Marziyeh Samiee, Arina Ansari, Kimia Eskandari, Negar Namakkoobi, Fatemeh Soltanimoghadam, Hadi Mashali, Erfan Yavari, Saba Bay, Nafiseh Memaripanah, Elahe Meftah, Saeed Amanzadeh, Fatemeh Talati, Sasan Bahramzadeh
Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa
James A. Feinstein, Anna L. Bruckner, Benjamin Chastek, Amy Anderson, Juan Roman
Cognitive functioning and mental health in children with a primary mitochondrial disease
Kim F. E. van de Loo, José A. E. Custers, Lonneke de Boer, Marloes van Lieshout, Maaike C. de Vries, Mirian C. H. Janssen, Christianne M. Verhaak
Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome
Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagnon
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy
F. Eichler, Caroline Sevin, M. Barth, F. Pang, K. Howie, M. Walz, A. Wilds, C. Calcagni, C. Chanson, L. Campbell
Historical and projected public spending on drugs for rare diseases in Canada between 2010 and 2025
Richard Lech, Gideon Chow, Kamalpreet Mann, Patrick Mott, Christine Malmberg, Lindy Forte
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
Soo Yeon Kim, Seungbok Lee, Hyewon Woo, Jiyeon Han, Young Jun Ko, Youngkyu Shim, Soojin Park, Se Song Jang, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Anna Cho, Hunmin Kim, Hee Hwang, Ji Eun Choi, Man Jin Kim, Jangsup Moon, Moon-Woo Seong, Sung Sup Park, Sun Ah Choi, Ji Eun Lee, Young Se Kwon, Young Bae Sohn, Jon Soo Kim, Won Seop Kim, Yun Jeong Lee, Soonhak Kwon, Young Ok Kim, Hoon Kook, Yong Gon Cho, Chong Kun Cheon, Ki-Soo Kang, Mi-Ryoung Song, Young-Joon Kim, Hyuk-Jin Cha, Hee-Jung Choi, Yun Kee, Sung-Gyoo Park, Seung Tae Baek, Murim Choi, Dong-Sung Ryu, Jong-Hee Chae
Rare disease curative care expenditure-financing scheme-health provider–beneficiary group analysis: an empirical study in Sichuan Province, China
Jia Li, Lian Yang, Yitong Zhang, Hailun Liao, Yuan Ma, Qun Sun
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, Ramune Vilimiene, Camila Armirola-Ricaurte, Kristina Grigalioniene, Alexandra Ekshteyn, Ausra Morkuniene, Arunas Vaitkevicius, Els De Vriendt, Jonathan Baets, Steven S. Scherer, Laima Ambrozaityte, Algirdas Utkus, Albena Jordanova, Kristien Peeters
Children with a rare congenital genetic disorder: a systematic review of parent experiences
Charlotte von der Lippe, Ingrid Neteland, Kristin Billaud Feragen
Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review
Marina Cerezo-Cayuelas, Amparo Pérez-Silva, Clara Serna-Muñoz, Ascensión Vicente, Yolanda Martínez-Beneyto, Inmaculada Cabello-Malagón, Antonio José Ortiz-Ruiz
Long-term safety and efficacy of gene-corrected autologous keratinocyte grafts for recessive dystrophic epidermolysis bullosa
Jodi Y. So, Jaron Nazaroff, Chinonso V. Iwummadu, Nicki Harris, Emily S. Gorell, Shivali Fulchand, Irene Bailey, Daniel McCarthy, Zurab Siprashvili, M. Peter Marinkovich, Jean Y. Tang, Albert S. Chiou
Immunological consequences of compromised ocular immune privilege accelerate retinal degeneration in retinitis pigmentosa
K. Varsha Mohan, Alaknanda Mishra, Abaranjitha Muniyasamy, Prakriti Sinha, Parul Sahu, Ashwani Kesarwani, Kshama Jain, Perumal Nagarajan, Vinod Scaria, Manisha Agarwal, Naseem S. Akhter, Chanda Gupta, Pramod Upadhyay
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
Ayami Yoshimi, Kaori Ishikawa, Charlotte Niemeyer, Sarah C. Grünert
Reducing global health inequalities for a rare disorder: evaluating the international Prader–Willi Syndrome Organisation’s Echo® programme
Tanzil Rujeedawa, Nora McNairney, Shelly Cordner, James O’Brien, Georgina Loughnan, Anthony Holland
Work productivity and activity in patients with SAPHO syndrome: a cross-sectional observational study
Chen Li, Heng Xu, Liang Gong, Afang Wang, Xia Dong, Kai Yuan, Guangrui Huang, Shufeng Wei, Luying Sun
Genomic characteristics of two breast malignant phyllodes tumors during pregnancy and lactation identified through whole-exome sequencing
Ting Lei, Mengjia Shen, Xu Deng, Yongqiang Shi, Yan Peng, Hui Wang, Tongbing Chen
Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study
Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgartner, Isabell Cordts, Astrid Eisenkölbl, Marina Flotats-Bastardas, Johannes Friese, René Günther, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jörg Jahnel, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Annette Schwerin-Nagel, Christof Reihle, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Regina Trollmann, Markus Weiler, Claudia Weiß, Gert Wiegand, Ekkehard Wilichowski, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, Lisa Ameshofer, Barbara Andres, Daniela Angelova-Toshkina, Daniela Banholzer, Christina Bant, Petra Baum, Sandra Baumann, Ute Baur, Benedikt Becker, Bettina Behring, Julia Bellut, Andrea Bevot, Jasmin Bischofberger, Lisa Bitzan, Bogdan Bjelica, Markus Blankenburg, Sandra Böger, Friederike Bonetti, Anke Bongartz, Svenja Brakemeier, Lisa Bratka, Nathalie Braun, Sarah Braun, Brigitte Brauner, Christa Bretschneider, Nadine Burgenmeister, Bea Burke, Sebahattin Cirak, Andrea Dall, Heike de Vries, Adela Della Marina, Jonas Denecke, Marcus Deschauer, Zylfie Dibrani, Uta Diebold, Lutz Dondit, Jessica Drebes, Joenna Driemeyer, Vladimir Dukic, Matthias Eckenweiler, Mirjam Eminger, Michal Fischer, Cornelia Fischer, Maren Freigang, Philippa Gaiser, Andrea Gangfuß, Stephanie Geitmann, Annette George, Magdalena Gosk-Tomek, Susanne Grinzinger, Kristina Gröning, Martin Groß, Anne-Katrin Güttsches, Anna Hagenmeyer, Hans Hartmann, Julia Haverkamp, Miriam Hiebeler, Annegret Hoevel, Georg Friedrich Hoffmann, Britta Holtkamp, Dorothea Holzwarth, Annette Homma, Viola Horneff, Carolin Hörnig, Anna Hotter, Andrea Hubert, Peter Huppke, Eva Jansen, Lisa Jung, Nadja Kaiser, Stefan Kappel, Bolte Katharina, Johannes Koch, Stefan Kölke, Brigitte Korschinsky, Franziska Kostede, Karsten Krause, Hanna Küpper, Annina Lang, Irene Lange, Thorsten Langer, Yvonne Lechner, Helmar Lehmann, Christine Leypold, Paul Lingor, Jaqueline Lipka, Wolfgang Löscher, Antje Luiking, Gerrit Machetanz, Eva Malm, Kyriakos Martakis, Bettina Menzen, Moritz Metelmann, Gerd Meyer zu Hörste, Federica Montagnese, Kathrin Mörtlbauer, Petra Müller, Anne Müller, Anja Müller, Lars Müschen, Christoph Neuwirth, Moritz Niesert, Josefine Pauschek, Elke Pernegger, Susanne Petri, Veronika Pilshofer, Barbara Plecko, Jürgen Pollok, Martin Preisel, Manuel Pühringer, Anna Lisa Quinten, Sabine Raffler, Barbara Ramadan, Mika Rappold, Christian Rauscher, Kerstin Reckmann, Tabea Reinhardt, Melanie Röder, Doris Roland-Schäfer, Erdmute Roth, Lena Ruß, Afshin Saffari, Mareike Schimmel, Melina Schlag, Beate Schlotter-Weigel, Joanna Schneider, Jan-Christoph Schöne-Bake, David Schorling, Isabella Schreiner, Stephanie Schüssler, Michaela Schwarzbach, Michaela Schwippert, Luisa Semmler, Karin Smuda, Alina Sprenger-Svacina, Theresa Stadler, Paula Steffens, Daniela Steuernagel, Benjamin Stolte, Corinna Stoltenburg, Gehrke Tasch, Andreas Thimm, Elke Tiefenthaler, Raffi Topakian, Matthias Türk, Lieske van der Stam, Katia Vettori, Peter Vollmann, Matthias Vorgerd, Deike Weiss, Stephan Wenninger, Svea Werring, Maria Wessel, Ute Weyen, Sabine Wider, Nils Ole Wiebe, Anna Wiesenhofer, Sarah Wiethoff, Corinna Wirner, Camilla Wohnrade, Gilbert Wunderlich, Daniel Zeller, Michael Zemlin, Joachim Zobel
Efficacy of ketogenic diet in CDKL5-related epilepsy: a single arm meta-analysis
Jie Zhang, Jiayi Ma, Xuting Chang, Pengxia Wu, Shangru Li, Ye Wu
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice
Cheng Cheng, James Cleak, Lan Weiss, Heather Cater, Michelle Stewart, Sara Wells, Rod Carlo Columbres, Alyaa Shmara, C. Alejandra Morato Torres, Faria Zafar, Birgitt Schüle, Jonathan Neumann, Eli Hatchwell, Virginia Kimonis
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
Andreas Hahn, René Günther, Albert Ludolph, Oliver Schwartz, Regina Trollmann, Patrick Weydt, Markus Weiler, Kathrin Neuland, Martin Sebastian Schwaderer, Tim Hagenacker
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi, Amal Al Teneiji
Sharing is caring: a call for a new era of rare disease research and development
Nathan Denton, Andrew E. Mulberg, Monique Molloy, Samantha Charleston, David C. Fajgenbaum, Eric D. Marsh, Paul Howard
Sanfilippo syndrome: consensus guidelines for clinical care
Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton, Cara O’Neill
Parental coping with uncertainties along the severe combined immunodeficiency journey
Oksana Kutsa, Sara M. Andrews, Erin Mallonee, Angela Gwaltney, Alissa Creamer, Paul K. J. Han, Melissa Raspa, Barbara B. Biesecker
Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation
Jia-Tong Li, Ze-Xu Chen, Xiang-Jun Chen, Yong-Xiang Jiang
Transitioning of protein substitutes in patients with phenylketonuria: evaluation of current practice
Ozlem Yilmaz, Alex Pinto, Anne Daly, Catherine Ashmore, Sharon Evans, Nurcan Yabanci Ayhan, Anita MacDonald
Eosinophilic meningitis epidemiological data from a national database in Thailand’s Department of Disease Control: a pragmatic, retrospective analytical study
Sittichai Khamsai, Verajit Chotmongkol, Somsak Tiamkao, Wanchai Maleewong, Panita Limpawattana, Watchara Boonsawat, Bundit Sawunyavisuth, Noppadol Aekphachaisawat, Kittisak Sawanyawisuth
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel
Jia Chen, Hong Li, Sicheng Guo, Zhe Yang, Shaoping Sun, JunJie Zeng, Hongjuan Gou, Yechang Chen, Feng Wang, Yanping Lin, Kun Huang, Hong Yue, Yuting Ma, Yubi Lin
Effects of a support group leader education program jointly developed by health professionals and patients on peer leader self-efficacy among leaders of scleroderma support groups: a two-arm parallel partially nested randomised controlled trial
Brett D. Thombs, Brooke Levis, Marie-Eve Carrier, Laura Dyas, Julia Nordlund, Lydia Tao, Kylene Aguila, Angelica Bourgeault, Violet Konrad, Maureen Sauvé, Kerri Connolly, Richard S. Henry, Nora Østbø, Alexander W. Levis, Linda Kwakkenbos, Vanessa L. Malcarne, Ghassan El-Baalbaki, Marie Hudson, Amanda Wurz, S. Nicole Culos-Reed, Robert W. Platt, Andrea Benedetti, Stephen Elrod, Catherine Fortuné, Amy Gietzen, Karen Gottesman, Karen Nielsen, Michelle Richard, Ken Rozee, Nancy Stephens
Lung and chest wall volume during vital capacity manoeuvre in Osteogenesis Imperfecta
Antonella LoMauro, Davide Lacca, Vittorio Landoni, Andrea Aliverti
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira
Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries
Yinshi Guo, Huanping Zhang, He Lai, Huiying Wang, Herberto J. Chong-Neto, Solange O. R. Valle, Rongfei Zhu
A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis
Martina Franzin, Silvia Rossetto, Rachele Ruoso, Rossella Del Savio, Gabriele Stocco, Giuliana Decorti, Riccardo Addobbati
An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan
Hiroyuki Ida, Yuko Watanabe, Rieko Sagara, Yoichi Inoue, Jovelle Fernandez
Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS)
Federico Spataro, Fabio Viggiani, Domenico Giorgio Macchia, Valentina Rollo, Albina Tummolo, Patrizia Suppressa, Carlo Sabba’, Maria Pia Rossi, Lucia Giliberti, Francesco Satriano, Eustachio Nettis, Danilo Di Bona, Maria Filomena Caiaffa, Rita Fischetto, Luigi Macchia
The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland
Georgina Morton, Sophie Thomas, Pat Roberts, Vivienne Clark, Jackie Imrie, Alexandra Morrison
Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia
Xunzhe Yang, Xiaohai Sun, Qing Liu, Liyang Liu, Jinyue Li, Zhengyi Cai, Kang Zhang, Shuangwu Liu, Di He, Dongchao Shen, Mingsheng Liu, Liying Cui, Xue Zhang
Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia
K. P. Thompson, J. Sykes, P. Chandakkar, P. Marambaud, N. T. Vozoris, D. A. Marchuk, M. E. Faughnan
Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa
Rachel Box, Catina Bernardis, Alexander Pleshkov, Nicky Jessop, Catherine Miller, Jennifer Skye, Virginia O’Brien, Matthew Veerkamp, Anna Carolina Ferreira da Rocha, Roger Cornwall
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Francyne Kubaski, Alberto Burlina, Danilo Pereira, Camilo Silva, Zackary M. Herbst, Franciele B. Trapp, Kristiane Michelin-Tirelli, Franciele F. Lopes, Maira G. Burin, Ana Carolina Brusius-Facchin, Alice B. O. Netto, Edina Poletto, Tamires M. Bernardes, Gerson S. Carvalho, Ney B. Sorte, Fernanda N. Ferreira, Nilza Perin, Marta R. Clivati, Marnie T. S. de Santana, Sandra F. G. Lobos, Emilia K. E. A. Leão, Marcelo P. Coutinho, Paola V. Pinos, Maria L. S. F. Santos, Debora A. Penatti, Charles M. Lourenço, Giulia Polo, Roberto Giugliani
The actual status of drug prices and adjustment factors for drug price calculation: an analysis of ultra-orphan drug development in Japan
Akihiko Kawakami, Ken Masamune
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis
Eun Hye Cho, Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki
Genetic analysis of 55 cases with fetal skeletal dysplasia
Ying Bai, Yue Sun, Ning Liu, Li Wang, Zhihui Jiao, Yaqin Hou, Huikun Duan, Qianqian Li, Xiaofan Zhu, Jingjing Meng, Xiangdong Kong
Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8mnd mice
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer
Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone
Diana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, Séverine Trabado, Candace Bensignor, Christelle Audrain, Volha Zhukouskaya, Régis Coutant, Jugurtha Berkenou, Anya Rothenbuhler, Gabriele Haeusler, Agnès Linglart
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3
Sixian Wu, Xiang Wang, Siyu Dai, Guohui Zhang, Jiaojiao Zhou, Ying Shen
Fetal umbilical artery thrombosis: prenatal diagnosis, treatment and follow-up
Xiafang Wu, Chenchen Wei, Ruifeng Chen, Linxian Yang, Weifei Huang, Liang Huang, XinXin Yan, Xuedong Deng, Zhongshan Gou
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, Hamed Akhlaghi, Sanjay I. Bidichandani, Sylvia Boesch, Miriam Cnop, Manuela Corti, Antoine Duquette, Alexandra Durr, Andreas Eigentler, Anton Emmanuel, John M. Flynn, Noushin Chini Foroush, Anne Fournier, Marcondes C. França Jr, Paola Giunti, Ellen W. Goh, Lisa Graf, Marios Hadjivassiliou, Maggie-Lee Huckabee, Mary G. Kearney, Arnulf H. Koeppen, Yenni Lie, Kimberly Y. Lin, Anja Lowit, Caterina Mariotti, Katherine Mathews, Shana E. McCormack, Lisa Montenegro, Thierry Morlet, Gilles Naeije, Jalesh N. Panicker, Michael H. Parkinson, Aarti Patel, Ronald Mark Payne, Susan Perlman, Roger E. Peverill, Francoise Pousset, Hélène Puccio, Myriam Rai, Gary Rance, Kathrin Reetz, Tennille J. Rowland, Phoebe Sansom, Konstantinos Savvatis, Ellika T. Schalling, Ludger Schöls, Barbara Smith, Elisabetta Soragni, Caroline Spencer, Matthis Synofzik, David J. Szmulewicz, Geneieve Tai, Jaclyn Tamaroff, Lauren Treat, Ariane Veilleux Carpentier, Adam P. Vogel, Susan E. Walther, David R. Weber, Neal J. Weisbrod, George Wilmot, Robert B. Wilson, Grace Yoon, Theresa Zesiewicz
Microbiome insights into pediatric familial adenomatous polyposis
Thomas M. Attard, Seth Septer, Caitlin E. Lawson, Mark I. Attard, Sonny T. M. Lee, Shahid Umar
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial
Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist, Manuel Schiff
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, Manuel Posada de la Paz, Verónica Alonso-Ferreira
A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients
Beata Kruk, Malgorzata Milkiewicz, Joanna Raszeja-Wyszomirska, Piotr Milkiewicz, Marcin Krawczyk
Diagnostic delay of myositis: an integrated systematic review
Tergel Namsrai, Anne Parkinson, Anita Chalmers, Christine Lowe, Matthew Cook, Christine Phillips, Jane Desborough
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases
Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira
Post-transplant cyclophosphamide for GVHD prophylaxis in pediatrics with chronic active Epstein-Barr virus infection after haplo-HSCT
Rongmu Luo, Xiaomei Zhang, Ya Wang, Qihang Man, Wenjing Gu, Zhengqin Tian, Jingbo Wang
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl, Johan L. K. Van Hove
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
Zahra Beyzaei, Sara Nabavizadeh, Sara Karimzadeh, Bita Geramizadeh
Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country
Roberta Shcolnik Szor, Fabio Fernandes, Angelina Maria Martins Lino, Leonardo Oliveira Mendonça, Fernanda Salles Seguro, Valkercyo Araujo Feitosa, Jussara Bianchi Castelli, Lecticia Barbosa Jorge, Lucas Bassolli de Oliveira Alves, Precil Diego Miranda de Menezes Neves, Evandro de Oliveira Souza, Livia Barreira Cavalcante, Denise Malheiros, Jorge Kalil, Gracia Aparecida Martinez, Vanderson Rocha
Survey on the management of Pompe disease in routine clinical practice in Spain
Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego, Jordi Díaz-Manera
Correction to: Genomic characteristics of two breast malignant phyllodes tumors during pregnancy and lactation identified through whole-exome sequencing
Ting Lei, Mengjia Shen, Xu Deng, Yongqiang Shi, Yan Peng, Hui Wang, Tongbing Chen
Carer burden in rare inherited diseases: a literature review and conceptual model
Kerry Sandilands, Angela Williams, Angela J. Rylands
Exploring alternative financing models and early access schemes for orphan drugs: a Belgian case study
Khadidja Abdallah, Kathleen Claes, Isabelle Huys, Lennert Follon, Charlotte Calis, Steven Simoens
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study
Louis Soussand, Mathieu Kuchenbuch, Claude Messiaen, Arnaud Sandrin, Anne-Sophie Jannot, Rima Nabbout
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders
Hongyan Jia, Qian Ma, Yi Liang, Dan Wang, Qinglin Chang, Bo Zhao, Zongrui Zhang, Jing Liang, Jing Song, Yidi Wang, Ranran Zhang, Zhanhan Tu, Yonghong Jiao
A retrospective study of 18 children with subcutaneous panniculitis-like T-cell lymphoma: multidrug combination chemotherapy or immunomodulatory therapy?
Yanlong Duan, Huixia Gao, Chunju Zhou, Ling Jin, Jing Yang, Shuang Huang, Meng Zhang, Yonghong Zhang, Tianyou Wang
Favourable outcome of acute hepatitis E infection in patients with ANCA-associated vasculitis
Markus Zeisbrich, Sarah Wendel, Stephanie Finzel, Reinhard E. Voll, Nils Venhoff
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar
Identifying adult hypophosphatasia in the rheumatology unit
Julia Feurstein, Martina Behanova, Judith Haschka, Katharina Roetzer, Gökhan Uyanik, Benjamin Hadzimuratovic, Martina Witsch-Baumgartner, Georg Schett, Jochen Zwerina, Roland Kocijan
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries
Bruna dos Santos Vieira, César H. Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M. A. Le Cornec, Peter A. C. ’t Hoen, Franz Schaefer, K. Joeri van der Velde, Morris A. Swertz, Mark D. Wilkinson, Annika Jacobsen, Marco Roos
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
Correction: Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa
Rachel Box, Catina Bernardis, Alexander Pleshkov, Nicky Jessop, Catherine Miller, Jennifer Skye, Virginia O’Brien, Matthew Veerkamp, Anna Carolina Ferreira da Rocha, Roger Cornwall
A multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome: a multicenter prospective observational study
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