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  1. Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with ...

    Authors: Tracy Brock Lowe, Jane DeLuca and Georgianne L. Arnold

    Citation: Orphanet Journal of Rare Diseases 2020 15:266

    Content type: Review

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  2. South Asia is the hotspot of beta-thalassemia, with an estimated 200,000 patients whose lives depend on regular blood transfusion. Due to COVID-19 pandemic, many countries have adopted unprecedented lockdown t...

    Authors: Mohammad Sorowar Hossain, Enayetur Raheem and Mahbubul H. Siddiqee

    Citation: Orphanet Journal of Rare Diseases 2020 15:265

    Content type: Letter to the Editor

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  3. Rare Diseases (RDs), which are defined as diseases affecting no more than 5 out of 10,000 people, are often severe, chronic and life-threatening. A main problem is the delay in diagnosing RDs. Clinical decisio...

    Authors: Jannik Schaaf, Martin Sedlmayr, Johanna Schaefer and Holger Storf

    Citation: Orphanet Journal of Rare Diseases 2020 15:263

    Content type: Review

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  4. How to address the counseling of lifetime risk of developing Parkinson’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In...

    Authors: Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, Maria Domenica Cappellini, Francesca Carubbi, Fiorina Giona, Gaetano Giuffrida, Silvia Linari, Andrea Pession, Antonella Quarta, Maurizio Scarpa, Marco Spada, Pietro Strisciuglio and Generoso Andria

    Citation: Orphanet Journal of Rare Diseases 2020 15:262

    Content type: Position statement

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  5. Previous work has identified age-related negative correlations for γ-hydroxybutyric acid (GHB) and γ-aminobutyric acid (GABA) in plasma of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD)....

    Authors: Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet and K. Michael Gibson

    Citation: Orphanet Journal of Rare Diseases 2020 15:261

    Content type: Research

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  6. There are limited data on economic aspects of the genetic variant of chronic obstructive pulmonary disease (COPD) in the context of the more prevalent form of COPD. The objective of this study was to isolate t...

    Authors: Jan Sieluk, Julia F. Slejko, Henry Silverman, Eleanor Perfetto and C. Daniel Mullins

    Citation: Orphanet Journal of Rare Diseases 2020 15:260

    Content type: Research

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  7. Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) can lead to severe ophthalmologic sequelae. The main risk factor is the severity of the initial ocular involvement. There are no recommendati...

    Authors: D. Thorel, S. Ingen-Housz-Oro, G. Royer, A. Delcampe, N. Bellon, C. Bodemer, A. Welfringer-Morin, D. Bremond-Gignac, M. P. Robert, M. Tauber, F. Malecaze, O. Dereure, V. Daien, A. Colin, C. Bernier, C. Couret…

    Citation: Orphanet Journal of Rare Diseases 2020 15:259

    Content type: Position statement

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  8. PMM2-CDG (CDG-Ia) is the most frequent N-glycosylation disorder. While supplying mannose to PMM2-deficient fibroblasts corrects the altered N-glycosylation in vitro, short term therapeutic approaches with mann...

    Authors: Roman Taday, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert and Thorsten Marquardt

    Citation: Orphanet Journal of Rare Diseases 2020 15:258

    Content type: Research

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  9. Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks. To study the natural course of HAE under therapy-free conditions throughout patient life is essential for practitioners and ...

    Authors: Yang Cao, Shuang Liu and Yuxiang Zhi

    Citation: Orphanet Journal of Rare Diseases 2020 15:257

    Content type: Research

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  10. Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the iden...

    Authors: Marcio M. Andrade-Campos, Laura López de Frutos, Jorge J. Cebolla, Irene Serrano-Gonzalo, Blanca Medrano-Engay, Mercedes Roca-Espiau, Beatriz Gomez-Barrera, Jorge Pérez-Heredia, David Iniguez and Pilar Giraldo

    Citation: Orphanet Journal of Rare Diseases 2020 15:256

    Content type: Research

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  11. Lymphangioleiomyomatosis (LAM) is a rare and progressive cystic lung disease with limited therapeutic options. We retrospectively analyzed the effects of a comprehensive 4-week inpatient pulmonary rehabilitati...

    Authors: Rainer Gloeckl, Christoph Nell, Tessa Schneeberger, Inga Jarosch, Martina Boensch, Henrik Watz, Hubert Wirtz, Tobias Welte, Klaus Kenn and Andreas Rembert Koczulla

    Citation: Orphanet Journal of Rare Diseases 2020 15:255

    Content type: Letter to the Editor

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  12. Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a le...

    Authors: Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender and Gaëtan Lesca

    Citation: Orphanet Journal of Rare Diseases 2020 15:254

    Content type: Research

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  13. Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease char...

    Authors: Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie…

    Citation: Orphanet Journal of Rare Diseases 2020 15:253

    Content type: Position statement

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  14. Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunctio...

    Authors: Ha Trang, Martin Samuels, Isabella Ceccherini, Matthias Frerick, Maria Angeles Garcia-Teresa, Jochen Peters, Johannes Schoeber, Marek Migdal, Agneta Markstrom, Giancarlo Ottonello, Raffaele Piumelli, Maria Helena Estevao, Irena Senecic-Cala, Barbara Gnidovec-Strazisar, Andreas Pfleger, Raquel Porto-Abal…

    Citation: Orphanet Journal of Rare Diseases 2020 15:252

    Content type: Review

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  15. The introduction of new therapy modalities has significantly improved the outcome of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients. However, relatively little is known about the e...

    Authors: Kimmo Weisshaar, Hannah Ewald, Jörg Halter, Sabine Gerull, Sandra Schönfeld, Yuliya Senft, Maria Martinez, Anne Leuppi-Taegtmeyer, Nina Khanna, Birgit Maier, Antonio Risitano, Regis Peffault de Latour, Andre Tichelli, Jakob Passweg and Beatrice Drexler

    Citation: Orphanet Journal of Rare Diseases 2020 15:249

    Content type: Research

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  16. Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA...

    Authors: Karamjot Sidhu, Bilal Ali, Lauren A. Burt, Steven K. Boyd and Aneal Khan

    Citation: Orphanet Journal of Rare Diseases 2020 15:251

    Content type: Research

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  17. We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6-associated congenital scoliosis (TACS). We further developed the TBX6-associated CS risk score (TACScor...

    Authors: Zefu Chen, Zihui Yan, Chenxi Yu, Jiaqi Liu, Yanbin Zhang, Sen Zhao, Jiachen Lin, Yuanqiang Zhang, Lianlei Wang, Mao Lin, Yingzhao Huang, Xiaoxin Li, Yuchen Niu, Shengru Wang, Zhihong Wu, Guixing Qiu…

    Citation: Orphanet Journal of Rare Diseases 2020 15:250

    Content type: Research

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  18. This study aimed to explore the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration (PKAN).

    Authors: Xuting Chang, Jie Zhang, Yuwu Jiang, Bufan Yao, Jingmin Wang and Ye Wu

    Citation: Orphanet Journal of Rare Diseases 2020 15:248

    Content type: Research

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  19. Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably. However, over time we noticed that many of these children exhibit...

    Authors: J. J. A. van den Dorpel, E. Poelman, L. Harlaar, H. A. van Kooten, L. J. van der Giessen, P. A. van Doorn, A. T. van der Ploeg, J. M. P. van den Hout and N. A. M. E. van der Beek

    Citation: Orphanet Journal of Rare Diseases 2020 15:247

    Content type: Research

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  20. Approximately 50–70% of patients with Kawasaki disease (KD) could present with cervical lymphadenopathy associated with deep neck inflammation, which may result in Grisel’s syndrome (GS). Given the possibility...

    Authors: Xiaoliang Liu, Kaiyu Zhou, Yimin Hua, Mei Wu, Lei Liu, Shuran Shao and Chuan Wang

    Citation: Orphanet Journal of Rare Diseases 2020 15:246

    Content type: Research

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  21. GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progre...

    Authors: Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo, Reiko Shimizu, Yuji Takahashi, Yuriko Oda, Ichizo Nishino, Harumasa Nakamura and Madoka Mori-Yoshimura

    Citation: Orphanet Journal of Rare Diseases 2020 15:245

    Content type: Research

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  22. STAT3 hyper-IgE syndrome (STAT3-HIES) is a rare primary immunodeficiency that clinically overlaps with atopic dermatitis. In addition to eczema, elevated serum-IgE, and recurrent infections, STAT3-HIES patient...

    Authors: Iris Meixner, Beate Hagl, Carolin I. Kröner, Benedikt D. Spielberger, Ekaterini Paschos, Gregor Dückers, Tim Niehues, Ronny Hesse and Ellen D. Renner

    Citation: Orphanet Journal of Rare Diseases 2020 15:244

    Content type: Research

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  23. Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to d...

    Authors: Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, Stefanie Beck-Wödl, Ralf A. Husain, Ludger Schöls and Christiane Kehrer

    Citation: Orphanet Journal of Rare Diseases 2020 15:243

    Content type: Research

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  24. Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a...

    Authors: Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt and Alma Kuechler

    Citation: Orphanet Journal of Rare Diseases 2020 15:242

    Content type: Research

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  25. Lung involvement in childhood Langerhans cell histiocytosis (LCH) is infrequent and rarely life threatening, but occasionally, severe presentations are observed.

    Authors: Solenne Le Louet, Mohamed-Aziz Barkaoui, Jean Miron, Claire Galambrun, Nathalie Aladjidi, Pascal Chastagner, Kamila Kebaili, Corinne Armari-Alla, Anne Lambilliotte, Julien Lejeune, Despina Moshous, Valeria Della Valle, Chiara Sileo, Hubert Ducou Le Pointe, Jean-François Chateil, Sylvain Renolleau…

    Citation: Orphanet Journal of Rare Diseases 2020 15:241

    Content type: Research

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  26. Desbuquois dysplasia (DBQD) was a rare autosomal recessive skeletal dysplasia. Calcium activated nucleotidase 1 (CANT1) mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but no...

    Authors: Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen and Bo-Feng Zhu

    Citation: Orphanet Journal of Rare Diseases 2020 15:240

    Content type: Research

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  27. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Guang-wen Gong, Ying-chun Chen, Peng-qian Fang and Rui Min

    Citation: Orphanet Journal of Rare Diseases 2020 15:239

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:137

  28. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen and Annet M. Bosch

    Citation: Orphanet Journal of Rare Diseases 2020 15:238

    Content type: Correction

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    The original article was published in Orphanet Journal of Rare Diseases 2020 15:42

  29. Tuberous Sclerosis Complex (TSC) and Neurofibromatosis type 1 (NF1) are neurocutaneous disorders commonly characterized by neuropsychiatric comorbidities. The TAND (Tuberous Sclerosis Associated Neuropsychiatr...

    Authors: Francesca Cervi, Veronica Saletti, Katherine Turner, Angela Peron, Sara Bulgheroni, Matilde Taddei, Francesca La Briola, Maria Paola Canevini and Aglaia Vignoli

    Citation: Orphanet Journal of Rare Diseases 2020 15:237

    Content type: Research

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  30. Erdheim-Chester Disease (ECD) is a rare type of non-Langerhans histiocytosis. Skeletal structures are affected in over 95% ECD patients. Due to the lack of proper imaging assessment tools, the alteration of bo...

    Authors: Tianhua He, Lijia Cui, Na Niu, Fengdan Wang, Huilei Miao, Hao Zhao, Xuemin Gao, Chang Liu, Fan Yu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Daobin Zhou, Jian Li, Xinxin Cao…

    Citation: Orphanet Journal of Rare Diseases 2020 15:236

    Content type: Research

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  31. Independent disease registries for pre-and post-approval of novel treatments for rare diseases are increasingly important for healthcare professionals, patients, regulators and the pharmaceutical industry. Cur...

    Authors: Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann and Saco J. de Visser

    Citation: Orphanet Journal of Rare Diseases 2020 15:235

    Content type: Position statement

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  32. The Office of Orphan Products Development (OOPD) of the United States (U.S.) Food and Drug Administration (FDA) has awarded over 700 grants to conduct clinical trials of medicals products for rare diseases sin...

    Authors: Kathleen L. Miller, Christine Mueller, Gumei Liu, Katherine I. Miller Needleman and Janet Maynard

    Citation: Orphanet Journal of Rare Diseases 2020 15:234

    Content type: Research

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  33. Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder in which hyperphagia (excessive appetite) is a hallmark feature. Understanding how weight changes over time in this population is important for...

    Authors: Caroline J. Vrana-Diaz, Priya Balasubramanian, Nathalie Kayadjanian, Jessica Bohonowych and Theresa V. Strong

    Citation: Orphanet Journal of Rare Diseases 2020 15:233

    Content type: Research

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  34. Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease.

    Authors: Meng Yuan, Eleni-Rosalina Andrinopoulou, Michelle E. Kruijshaar, Aglina Lika, Laurike Harlaar, Ans T. van der Ploeg, Dimitris Rizopoulos and Nadine A. M. E. van der Beek

    Citation: Orphanet Journal of Rare Diseases 2020 15:232

    Content type: Research

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  35. Alternating Hemiplegia of Childhood (AHC) is caused by mutations of the ATP1A3 gene which is expressed in brain areas that include structures controling autonomic, gastrointestinal, gut motility and GABAergic ...

    Authors: Milton Pratt, Julie Uchitel, Nancy McGreal, Kelly Gordon, Lyndsey Prange, Melissa McLean, Richard J. Noel, Blaire Rikard, Mary K. Rogers Boruta and Mohamad A. Mikati

    Citation: Orphanet Journal of Rare Diseases 2020 15:231

    Content type: Research

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  36. An amendment to this paper has been published and can be accessed via the original article.

    Authors: A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani…

    Citation: Orphanet Journal of Rare Diseases 2020 15:230

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:171

  37. Hemophagocytic lymphohistiocytosis (HLH) is a relatively rare and life-threatening disorder. Early mortality remains significantly high among patients with HLH. Our aim was to investigate clinical features and...

    Authors: Xun Li, Haipeng Yan, Xinping Zhang, Jiaotian Huang, Shi-Ting Xiang, Zhenya Yao, Ping Zang, Desheng Zhu, Zhenghui Xiao and Xiulan Lu

    Citation: Orphanet Journal of Rare Diseases 2020 15:229

    Content type: Research

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  38. During the COVID-19 outbreak, the European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created the “COVID-19 Helpline for Rare B...

    Authors: E. Brizola, G. Adami, G. I. Baroncelli, M. F. Bedeschi, P. Berardi, S. Boero, M. L. Brandi, L. Casareto, E. Castagnola, P. Fraschini, D. Gatti, S. Giannini, M. V. Gonfiantini, V. Landoni, A. Magrelli, G. Mantovani…

    Citation: Orphanet Journal of Rare Diseases 2020 15:228

    Content type: Position statement

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  39. Keratoconus (KC) is a common, degenerative disorder of the cornea, and genetic factors play a key role in its development. However, the genetic etiology of KC is still unclear. This study used the family of tw...

    Authors: Xiao-dan Hao, Xiu-nian Chen, Yang-yang Zhang, Peng Chen, Chao Wei, Wei-yun Shi and Hua Gao

    Citation: Orphanet Journal of Rare Diseases 2020 15:227

    Content type: Research

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  40. Rare disease patients often struggle to find both medical advice and emotional support for their diagnosis. Consequently, many rare disease patient support forums have appeared on hospital webpages, social med...

    Authors: James Gow, Colin Moffatt and Jamie Blackport

    Citation: Orphanet Journal of Rare Diseases 2020 15:226

    Content type: Research

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  41. Thrombotic thrombocytopenic purpura (TTP) is associated with more deleterious outcomes in patients with systemic lupus erythematosus (SLE). However, ADAMTS13 (a disintegrin and metalloproteinase with a thrombo...

    Authors: Cai Yue, Jian Su, Xiaohong Fan, Li Song, Wei Jiang, Jinghua Xia, Tao Shi, Xuan Zhang and Xuemei Li

    Citation: Orphanet Journal of Rare Diseases 2020 15:225

    Content type: Research

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  42. Pricing and reimbursement decisions for orphan drugs are faced with differences access between European countries depending on each reimbursement policies, evaluation processes and timings. In 2013, the therap...

    Authors: Xavier Badia, Tania Vico, John Shepherd, Alicia Gil, José Luis Poveda-Andrés and César Hernández

    Citation: Orphanet Journal of Rare Diseases 2020 15:224

    Content type: Research

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  43. Early blindness secondary to incurable retinal detachment is one of the main complications of incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been ...

    Authors: Sarah Michel, Clothilde Reynaud, Alejandra Daruich, Smail Hadj-Rabia, Dominique Bremond-Gignac, Christine Bodemer and Matthieu P. Robert

    Citation: Orphanet Journal of Rare Diseases 2020 15:223

    Content type: Research

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  44. The Roma are a European ethnic minority threatened by several recessive diseases.

    Authors: Dana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, Zuzana Slobodova, Martina Skopkova, Andrea Soltysova, Andrej Ficek, Jan Jencik, Jana Lastuvkova, Daniela Gasperikova and Pavel Seeman

    Citation: Orphanet Journal of Rare Diseases 2020 15:222

    Content type: Research

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  45. Hereditary angioedema (HAE) is a rare genetic disease and characterized by clinical features such as paroxysmal, recurrent angioedema of the skin, the gastrointestinal tract, and the upper airways. Swelling of...

    Authors: Markus Magerl, Holger Gothe, Simon Krupka, Anja Lachmann and Christoph Ohlmeier

    Citation: Orphanet Journal of Rare Diseases 2020 15:221

    Content type: Research

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  46. Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, ...

    Authors: Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo and Kimitoshi Nakamura

    Citation: Orphanet Journal of Rare Diseases 2020 15:220

    Content type: Research

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  47. Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the disorder is usually associated with neutropen...

    Authors: Sarah C. Grünert, Roland Elling, Bärbel Maag, Saskia B. Wortmann, Terry G. J. Derks, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian and Ute Spiekerkoetter

    Citation: Orphanet Journal of Rare Diseases 2020 15:218

    Content type: Research

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  48. Individuals and/or caregivers of individuals affected by spinal muscular atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of wor...

    Authors: Lisa Belter, Rosángel Cruz and Jill Jarecki

    Citation: Orphanet Journal of Rare Diseases 2020 15:217

    Content type: Research

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  49. Fabry disease (FD) is a systemic X-linked lysosomal disorder. A ‘peripheral nerve variant’ of FD has been hypothesized in subjects with neuropathy, without the early manifestations of the classic phenotype. A ...

    Authors: Eugenia Rota, Marina Grandis, Alessia Di Sapio, Elisabetta Ghiglione, Pietro Fiorentino, Alessandra Repetto, Claudia Giliberto, Chiara Gemelli, Nicola Morelli, Angelo Schenone and Dario Cocito

    Citation: Orphanet Journal of Rare Diseases 2020 15:216

    Content type: Letter to the Editor

    Published on: