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  1. This study assesses the areas and extent of impact of the Coronavirus Disease of 2019 (COVID-19) pandemic on rare disease (RD) organisations in the Asia Pacific region. There is no existing literature that foc...

    Authors: Claudia Ching Yan Chung, Yvette Nga Chung Ng, Ritu Jain and Brian Hon Yin Chung

    Citation: Orphanet Journal of Rare Diseases 2021 16:119

    Content type: Research

    Published on:

  2. Mastocytosis is a rare disease characterised by the accumulation and/or proliferation of abnormal mast cells (MCs) in one or several organs. It may present with a number of different symptoms that involve vari...

    Authors: Fatma Jendoubi, Maella Severino-Freire, Mathilde Negretto, Christophe Arbus, Carle Paul and Cristina Bulai Livideanu

    Citation: Orphanet Journal of Rare Diseases 2021 16:118

    Content type: Research

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  3. Pharmacological corticosteroid therapy is the standard of care in Duchenne Muscular Dystrophy (DMD) that aims to control symptoms and slow disease progression through potent anti-inflammatory action. However, ...

    Authors: Stephanie Kourakis, Cara A. Timpani, Dean G. Campelj, Patricia Hafner, Nuri Gueven, Dirk Fischer and Emma Rybalka

    Citation: Orphanet Journal of Rare Diseases 2021 16:117

    Content type: Position statement

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  4. Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high c...

    Authors: Silvia Amor-Barris, Helle Høyer, Lin V. Brauteset, Els De Vriendt, Linda Strand, Albena Jordanova, Geir J. Braathen and Kristien Peeters

    Citation: Orphanet Journal of Rare Diseases 2021 16:116

    Content type: Research

    Published on:

  5. Autoimmune pulmonary alveolar proteinosis (APAP) results from the suppression of granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling by a neutralizing autoantibody against GM-CSF. B cell-activa...

    Authors: Masaki Hirose, Toru Arai, Chikatoshi Sugimoto, Takayuki Takimoto, Reiko Sugawara, Shojiro Minomo, Sayoko Shintani, Naoko Takeuchi, Kanako Katayama, Yasushi Inoue, Tomoko Kagawa, Takahiko Kasai, Masanori Akira and Yoshikazu Inoue

    Citation: Orphanet Journal of Rare Diseases 2021 16:115

    Content type: Research

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  6. Hydroxyurea is one of the earliest drugs that showed promise in the management of haemoglobinopathies that include β-thalassaemia and sickle cell disease. Despite this, many aspects of hydroxyurea are either u...

    Authors: Nirmani Yasara, Anuja Premawardhena and Sachith Mettananda

    Citation: Orphanet Journal of Rare Diseases 2021 16:114

    Content type: Review

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

    Authors: Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar and Simon A. Jones

    Citation: Orphanet Journal of Rare Diseases 2021 16:113

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:13

  8. Adenylosuccinate lyase deficiency (ADSLD) is an ultrarare neurometabolic recessive disorder caused by loss-of-function mutations in the ADSL gene. The disease is characterized by wide clinical variability. Here w...

    Authors: Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia and Andrea Bartuli

    Citation: Orphanet Journal of Rare Diseases 2021 16:112

    Content type: Research

    Published on:

  9. Genetic variants of TOLLIP and MUC5B, both on chromosome 11, have been reported to be associated with the development and/or prognosis of idiopathic pulmonary fibrosis (IPF). This retrospective study was condu...

    Authors: Francesco Bonella, Ilaria Campo, Michele Zorzetto, Eda Boerner, Shinichiro Ohshimo, Dirk Theegarten, Christian Taube and Ulrich Costabel

    Citation: Orphanet Journal of Rare Diseases 2021 16:111

    Content type: Research

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  10. Lipoprotein apheresis (LA) is considered as an add-on therapy for patients with familial hypercholesterolemia (FH). We aimed to analyze the data collected in the last 15 years from FH patients treated with LA,...

    Authors: J. Víšek, M. Bláha, V. Bláha, M. Lášticová, M. Lánska, C. Andrýs, J. Duintjer Tebbens, Ivone Cristina Igreja e Sá, K. Tripská, M. Vicen, I. Najmanová and P. Nachtigal

    Citation: Orphanet Journal of Rare Diseases 2021 16:110

    Content type: Research

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  11. PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated m...

    Authors: Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine and Veronika Dvorakova

    Citation: Orphanet Journal of Rare Diseases 2021 16:109

    Content type: Research

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  12. Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutation...

    Authors: Kathryn M. Meurs, Brian G. Williams, Dylan DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco and Sandra Tou

    Citation: Orphanet Journal of Rare Diseases 2021 16:108

    Content type: Research

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  13. Enzyme replacement therapy (ERT) with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is being developed to treat patients with ASM deficiency (ASMD), commonly known as Niemann–Pick disease ...

    Authors: Bethanie Garside, Jan Hoong Ho, See Kwok, Yifen Liu, Shaishav Dhage, Rachelle Donn, Zohaib Iqbal, Simon A. Jones and Handrean Soran

    Citation: Orphanet Journal of Rare Diseases 2021 16:107

    Content type: Research

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  14. Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have be...

    Authors: Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avilés-Plaza, Guillermo Glover-López, Carmen Carazo-Díaz and Encarna Guillén-Navarro

    Citation: Orphanet Journal of Rare Diseases 2021 16:106

    Content type: Research

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  16. X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the m...

    Authors: Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda…

    Citation: Orphanet Journal of Rare Diseases 2021 16:104

    Content type: Research

    Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:154

  17. Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowl...

    Authors: Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Ariadna González-del Angel, Leticia Belmont-Martínez, Carlos López-Candiani and Isabel Ibarra-González

    Citation: Orphanet Journal of Rare Diseases 2021 16:103

    Content type: Research

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  19. A recent report on long-term dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG) claimed improved glycosylation and called for double-blind randomized study of the dietary supplement ...

    Authors: Peter Witters, Andrew C. Edmondson, Christina Lam, Christin Johnsen, Marc C. Patterson, Kimiyo M. Raymond, Miao He, Hudson H. Freeze and Eva Morava

    Citation: Orphanet Journal of Rare Diseases 2021 16:102

    Content type: Letter to the Editor

    Published on:

  20. The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and nav...

    Authors: Jian Yang, Cong Dong, Huilong Duan, Qiang Shu and Haomin Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:101

    Content type: Research

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  21. Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the gene...

    Authors: Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer and Yufei Shi

    Citation: Orphanet Journal of Rare Diseases 2021 16:100

    Content type: Research

    Published on:

  22. Behçet’s disease (BD) is a systemic variable vessel vasculitis that involves the skin, mucosa, joints, eyes, arteries, veins, nervous system and gastrointestinal system, presenting with remissions and exacerba...

    Authors: Isabelle Kone-Paut, Stéphane Barete, Bahram Bodaghi, Kumaran Deiva, Anne-Claire Desbois, Caroline Galeotti, Julien Gaudric, Gilles Kaplanski, Alfred Mahr, Nicolas Noel, Maryam Piram, Tu-Anh Tran, Bertrand Wechsler and David Saadoun

    Citation: Orphanet Journal of Rare Diseases 2021 16(Suppl 1):352

    Content type: Position statement

    Published on:

    This article is part of a Supplement: Volume 16 Supplement 1

  23. Cardiac abnormalities have been observed in patients with mucopolysaccharidosis type II (MPS II). The aim of this study was to investigate the cardiac features and natural progression of Taiwanese patients wit...

    Authors: Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang and Shuan-Pei Lin

    Citation: Orphanet Journal of Rare Diseases 2021 16:99

    Content type: Research

    Published on:

  24. X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic disorder, affects the normal development of ectodermal derivatives, such as hair, skin, teeth, and sweat glands. It is caused by pathogenic va...

    Authors: Laura Körber, Holm Schneider, Nicole Fleischer and Sigrun Maier-Wohlfart

    Citation: Orphanet Journal of Rare Diseases 2021 16:98

    Content type: Research

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

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

    Citation: Orphanet Journal of Rare Diseases 2021 16:97

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:221

  26. With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years...

    Authors: Allison Mazzella, Mary Curry, Lisa Belter, Rosángel Cruz and Jill Jarecki

    Citation: Orphanet Journal of Rare Diseases 2021 16:96

    Content type: Research

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  27. Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherite...

    Authors: Thomas Opladen, Florian Gleich, Viktor Kozich, Maurizio Scarpa, Diego Martinelli, Franz Schaefer, Kathrin Jeltsch, Natalia Juliá-Palacios, Ángels García-Cazorla, Carlo Dionisi-Vici and Stefan Kölker

    Citation: Orphanet Journal of Rare Diseases 2021 16:95

    Content type: Research

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  28. Hereditary angioedema (HAE) is a rare, debilitating, genetic disease characterized by unpredictable, recurrent, and potentially fatal swelling of the skin and mucous membranes. We conducted a noninterventional...

    Authors: Joan Mendivil, Ryan Murphy, Marie de la Cruz, Ellen Janssen, Henrik Balle Boysen, Gagan Jain, Emel Aygören-Pürsün, Ishan Hirji and Giovanna Devercelli

    Citation: Orphanet Journal of Rare Diseases 2021 16:94

    Content type: Research

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  29. Patients with Hailey-Hailey and Darier diseases present with disabling inflammatory lesions located in large skin folds, which are often exacerbated or induced by sweating. Quality of life is highly impaired b...

    Authors: Isabelle Dreyfus, Aude Maza, Lauriane Rodriguez, Margot Merlos, Hélène Texier, Vanessa Rousseau, Agnès Sommet and Juliette Mazereeuw-Hautier

    Citation: Orphanet Journal of Rare Diseases 2021 16:93

    Content type: Research

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  30. Fractures in Gaucher disease type 1 (GD1) patients cause significant morbidity. Fracture risk may be decreased by enzyme replacement therapy (ERT) but not eliminated. When considering initiation of treatment, ...

    Authors: Patrick Deegan, Aneal Khan, José Simon Camelo Jr, Julie L. Batista and Neal Weinreb

    Citation: Orphanet Journal of Rare Diseases 2021 16:92

    Content type: Research

    Published on:

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

    Authors: Muthuvel Jayachandran, Stanislav V. Yuzhakov, Sanjay Kumar, Nicholas B. Larson, Felicity T. Enders, Dawn S. Milliner, Andrew D. Rule and John C. Lieske

    Citation: Orphanet Journal of Rare Diseases 2021 16:91

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2020 15:319

  32. Systemic Sclerosis (SSc) is a chronic autoimmune disease with a complex pathogenesis that includes vascular injury, abnormal immune activation, and tissue fibrosis. We provided a complete epidemiological chara...

    Authors: Alessio Coi, Simone Barsotti, Michele Santoro, Fabio Almerigogna, Elena Bargagli, Marzia Caproni, Giacomo Emmi, Bruno Frediani, Serena Guiducci, Marco Matucci Cerinic, Marta Mosca, Paola Parronchi, Renato Prediletto, Enrico Selvi, Gabriele Simonini, Antonio Gaetano Tavoni…

    Citation: Orphanet Journal of Rare Diseases 2021 16:90

    Content type: Research

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  33. One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare...

    Authors: Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans…

    Citation: Orphanet Journal of Rare Diseases 2021 16:89

    Content type: Research

    Published on:

  34. Multiple sclerosis (MS) is a chronic illness involving the central nervous system (CNS) that is characterised by inflammation, demyelination, and degenerative changes. Dalfampridine is one of the available tre...

    Authors: Enyao Zhang, Xin Tian, Ruoming Li, Chaoyang Chen, Min Li, Lingyun Ma, Ran Wei, Ying Zhou and Yimin Cui

    Citation: Orphanet Journal of Rare Diseases 2021 16:87

    Content type: Review

    Published on:

  35. Long-term prophylaxis with subcutaneous C1-inhibitor (C1-INH[SC]; HAEGARDA, CSL Behring) in patients with hereditary angioedema (HAE) due to C1-INH deficiency (C1-INH-HAE) was evaluated in an open-label exten...

    Authors: William R. Lumry, Bruce Zuraw, Marco Cicardi, Timothy Craig, John Anderson, Aleena Banerji, Jonathan A. Bernstein, Teresa Caballero, Henriette Farkas, Richard G. Gower, Paul K. Keith, Donald S. Levy, H. Henry Li, Markus Magerl, Michael Manning, Marc A. Riedl…

    Citation: Orphanet Journal of Rare Diseases 2021 16:86

    Content type: Research

    Published on:

  36. Pseudomyxoma peritonei (PMP) is a clinical malignant syndrome mainly originating from the appendix, with an incidence of 2–4 per million people. As a rare disease, an early and accurate diagnosis of PMP is dif...

    Authors: Yu-Lin Lin, Da-Zhao Xu, Xin-Bao Li, Feng-Cai Yan, Hong-Bin Xu, Zheng Peng and Yan Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:85

    Content type: Review

    Published on:

  37. In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusi...

    Authors: Maria João Pena, Alex Pinto, Manuela Ferreira de Almeida, Catarina de Sousa Barbosa, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Cláudia Camila Dias, Anita MacDonald, Nuno Borges and Júlio César Rocha

    Citation: Orphanet Journal of Rare Diseases 2021 16:84

    Content type: Research

    Published on:

  38. Ataxia-Telangiectasia (A-T) is a multi-system disorder that may be associated with endocrine changes, oxidative stress in addition to inflammation. Studies suggest that selenium is a trace element related to p...

    Authors: Itana Gomes Alves Andrade, Fabíola Isabel Suano-Souza, Fernando Luiz Affonso Fonseca, Carolina Sanchez Aranda Lago and Roseli Oselka Saccardo Sarni

    Citation: Orphanet Journal of Rare Diseases 2021 16:83

    Content type: Research

    Published on:

  39. Pulmonary large-cell neuroendocrine carcinoma (pLCNEC) is a very rare malignancy originating from the lung and bronchus, and its biological behaviour, clinical diagnosis, treatment and prognosis are poorly und...

    Authors: Yeye Chen, Jiaqi Zhang, Cheng Huang, Zhenhuan Tian, Xiaoyun Zhou, Chao Guo, Hongsheng Liu and Shanqing Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:82

    Content type: Research

    Published on:

  40. Cervical myelopathy and hydrocephalus occasionally occur in young children with achondroplasia. However, these conditions are not evaluated in a timely manner in many cases. The current study presents signifi...

    Authors: Youngbo Shim, Jung Min Ko, Tae-Joon Cho, Seung‐Ki Kim and Ji Hoon Phi

    Citation: Orphanet Journal of Rare Diseases 2021 16:81

    Content type: Research

    Published on:

  41. Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase. It is characterized by defective bone mineralization assoc...

    Authors: Elizabeth I. Pierpont, Jill H. Simmons, Katherine J. Spurlock, Ryan Shanley and Kyriakie M. Sarafoglou

    Citation: Orphanet Journal of Rare Diseases 2021 16:80

    Content type: Research

    Published on:

  42. Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal function and neurodegeneration causing serious morbidity and shortened life expectancy.

    Authors: Marc C. Patterson, Lucy Lloyd-Price, Christina Guldberg, Helen Doll, Claire Burbridge, Michael Chladek, Christine íDali, Eugen Mengel and Tara Symonds

    Citation: Orphanet Journal of Rare Diseases 2021 16:79

    Content type: Research

    Published on:

  43. We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by ...

    Authors: Caterina Agosto, Eleonora Salamon, Antuan Divisic, Francesca Benedetti, Luca Giacomelli, Aashni Shah, Giorgio Perilongo and Franca Benini

    Citation: Orphanet Journal of Rare Diseases 2021 16:78

    Content type: Letter to the Editor

    Published on:

  44. There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. Most research studies of rare diseases, including HD, use health information systems (HIS) as data so...

    Authors: Esther Vicente, Ainara Ruiz de Sabando, Fermín García, Itziar Gastón, Eva Ardanaz and María A. Ramos-Arroyo

    Citation: Orphanet Journal of Rare Diseases 2021 16:77

    Content type: Research

    Published on:

  45. Care coordination is considered important for patients with rare conditions, yet research addressing the impact of care coordination is limited. This study aimed to explore how care coordination (or lack of) i...

    Authors: Amy Simpson, Lara Bloom, Naomi J. Fulop, Emma Hudson, Kerry Leeson-Beevers, Stephen Morris, Angus I. G. Ramsay, Alastair G. Sutcliffe, Holly Walton and Amy Hunter

    Citation: Orphanet Journal of Rare Diseases 2021 16:76

    Content type: Research

    Published on:

  46. The development of new genetic testing methods and the approval of the first treatments raises questions regarding when and how to perform screening for inherited neuromuscular conditions. Screening directives...

    Authors: F. Lamy, A. Ferlini and Teresinha Evangelista

    Citation: Orphanet Journal of Rare Diseases 2021 16:75

    Content type: Research

    Published on:

  47. In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2...

    Authors: Paulius Palaima, José Berciano, Kristien Peeters and Albena Jordanova

    Citation: Orphanet Journal of Rare Diseases 2021 16:74

    Content type: Review

    Published on:

  48. The elucidation of pathomechanisms leading to the manifestation of rare (genetically caused) neurological diseases including neuromuscular diseases (NMD) represents an important step toward the understanding o...

    Authors: Andreas Hentschel, Artur Czech, Ute Münchberg, Erik Freier, Ulrike Schara-Schmidt, Albert Sickmann, Jens Reimann and Andreas Roos

    Citation: Orphanet Journal of Rare Diseases 2021 16:73

    Content type: Research

    Published on:

  49. Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an incre...

    Authors: Cormac McCarthy, Emmanuelle Bugnet, Amira Benattia, Michael P. Keane, Benoit Vedie, Gwenaël Lorillon and Abdellatif Tazi

    Citation: Orphanet Journal of Rare Diseases 2021 16:72

    Content type: Letter to the Editor

    Published on:

  50. Prader-Willi syndrome (PWS) is a complex, multi-system, neurodevelopmental disorder characterised by neonatal muscular hypotonia, short stature, high risk of obesity, hypogonadism, intellectual disabilities, d...

    Authors: Charlotte Höybye, Anthony J. Holland and Daniel J. Driscoll

    Citation: Orphanet Journal of Rare Diseases 2021 16:69

    Content type: Letter to the Editor

    Published on:

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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