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  2. 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:

  3. 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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  4. 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

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  5. 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

  6. 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

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  7. 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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  8. 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

  9. 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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  10. 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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  11. 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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  12. 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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  13. 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

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  14. 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

  15. 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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  16. 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

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  17. 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:

  18. 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

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  19. 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:

  20. 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

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  21. 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

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  22. 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

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  23. 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:

  24. 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

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  25. 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:

  26. 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:

  27. 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

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  28. 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

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  29. 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

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  30. 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:

  31. 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:

  32. 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:

  33. Patients have been showing a growing interest in taking active participation in decision making, and having the opportunity to drive clinical investigation. This is more common for patients who have a rare dis...

    Authors: Pedro Valdivielso, Marta Jacinto, Guillemette Devernois, Jorge Laplana, Maria García-Fernández and Ludovic Martin

    Citation: Orphanet Journal of Rare Diseases 2021 16:71

    Content type: Position statement

    Published on:

  34. Transthyretin amyloidosis, or ATTR, is a progressive and debilitating rare proteopathy generally manifested as either transthyretin amyloid polyneuropathy (ATTR-PN) or transthyretin amyloid cardiomyopathy (ATT...

    Authors: David Rintell, Dena Heath, Florencia Braga Mendendez, Elizabeth Cross, Theodore Cross, Vincent Knobel, Bruno Gagnon, Cameron Turtle, Alan Cohen, Edward Kalmykov and Jonathan Fox

    Citation: Orphanet Journal of Rare Diseases 2021 16:70

    Content type: Research

    Published on:

  35. 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:

  36. Rare diseases are life-threatening, serious, and chronic conditions that require complex care and have a low prevalence. An estimated one in 15 people worldwide are affected by rare diseases. This study aims t...

    Authors: Güvenç Koçkaya, Sibel Atalay, Gülpembe Oğuzhan, Mustafa Kurnaz, Selin Ökçün, Çiğdem Sar Gedik, Mete Şaylan and Nazlı Şencan

    Citation: Orphanet Journal of Rare Diseases 2021 16:68

    Content type: Research

    Published on:

  37. To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in S...

    Authors: Mercedes Guilabert, Alba Martínez-García, Marina Sala-González, Olga Solas and José Joaquín Mira

    Citation: Orphanet Journal of Rare Diseases 2021 16:67

    Content type: Research

    Published on:

  38. Kabuki syndrome is a genetic disorder that affects several body systems and presents with variations in symptoms and severity. The syndrome is named for a common phenotype of faces resembling stage makeup used...

    Authors: Young-In Chi, Timothy J. Stodola, Thiago M. De Assuncao, Elise N. Levrence, Swarnendu Tripathi, Nikita R. Dsouza, Angela J. Mathison, Donald G. Basel, Brian F. Volkman, Brian C. Smith, Gwen Lomberk, Michael T. Zimmermann and Raul Urrutia

    Citation: Orphanet Journal of Rare Diseases 2021 16:66

    Content type: Research

    Published on:

  39. Whilst diagnostic pathways for children with rare conditions have shown marked improvement, concerns remain about the care children with rare conditions receive at the level of the health care provider. There ...

    Authors: Monica Hytiris, Daisy Johnston, Shannon Mullen, Arlene Smyth, Elizabeth Dougan, Martina Rodie and S. Faisal Ahmed

    Citation: Orphanet Journal of Rare Diseases 2021 16:65

    Content type: Research

    Published on:

  40. Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder and characterized by acute or subacute painless visual loss. Environmental factors reported to trigger visual loss in LHON mut...

    Authors: Marie-Christine Reinert, David Pacheu-Grau, Claudia B. Catarino, Thomas Klopstock, Andreas Ohlenbusch, Michael Schittkowski, Ekkehard Wilichowski, Peter Rehling and Knut Brockmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:64

    Content type: Research

    Published on:

  41. Cockayne syndrome is a progressive multisystem genetic disorder linked to defective DNA repair and transcription. This rare condition encompasses a very wide spectrum of clinical severity levels ranging from s...

    Authors: M. A. Spitz, F. Severac, C. Obringer, S. Baer, N. Le May, N. Calmels and V. Laugel

    Citation: Orphanet Journal of Rare Diseases 2021 16:63

    Content type: Research

    Published on:

  42. The aim of this letter to the editor is to provide a comprehensive summary of uncertainty assessment in Health Technology Assessment, with a focus on transferability to the setting of rare diseases. The author...

    Authors: Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters and Manuela A. Joore

    Citation: Orphanet Journal of Rare Diseases 2021 16:62

    Content type: Letter to the Editor

    Published on:

  43. The coronavirus disease 2019 (COVID-19) pandemic has had unprecedented impact on the provision of medical care for genetic disorders. The purpose of this study was to assess the effects of the pandemic on neur...

    Authors: Heather B. Radtke, Bonita P. Klein-Tasman, Vanessa L. Merker, Pamela Knight, Nicole J. Ullrich, Justin T. Jordan, Bruce Korf and Scott R. Plotkin

    Citation: Orphanet Journal of Rare Diseases 2021 16:61

    Content type: Letter to the Editor

    Published on:

  44. Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i...

    Authors: N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin, G. Lina-Granade, C. Plault, C. Mottolese, R. Froissart and A. Fouilhoux

    Citation: Orphanet Journal of Rare Diseases 2021 16:60

    Content type: Research

    Published on:

  45. Mandibular condylar osteochondroma (OC) could lead to facial morphologic and functional disturbances, such as facial asymmetry, malocclusion, and temporomandibular joint dysfunction. However, after condylar OC...

    Authors: Lei Qi, Ningning Cao, Weiwen Ge, Tengfei Jiang, Linfeng Fan and Lei Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:59

    Content type: Research

    Published on:

  46. Anti-melanoma differentiation-associated protein-5 (anti-MDA5) positive patients are characterized by the high mortality rate caused by interstitial lung disease (ILD). We conducted a retrospective study to su...

    Authors: Qihua Yang, Tianfang Li, Xin Zhang, Kunlong Lyu, Shujun Wu, Yan Chen, Shengyun Liu and Zujiang Yu

    Citation: Orphanet Journal of Rare Diseases 2021 16:58

    Content type: Research

    Published on:

  47. Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is o...

    Authors: Roman Panovský, Martin Pešl, Jan Máchal, Tomáš Holeček, Věra Feitová, Lenka Juříková, Lucia Masárová, Eva Pešlová, Lukáš Opatřil, Mary Luz Mojica-Pisciotti and Vladimír Kincl

    Citation: Orphanet Journal of Rare Diseases 2021 16:57

    Content type: Research

    Published on:

  48. Thygeson’s superficial punctate keratitis (TSPK) is a rare and still poorly understood disease of the ocular surface, responsible for recurrent episodes of photophobia and eye pain. While TSPK is considered as...

    Authors: Rana Saad, Sami Saad, Oscar Haigh, Domitille Molinari, Marc Labetoulle and Antoine Rousseau

    Citation: Orphanet Journal of Rare Diseases 2021 16:55

    Content type: Research

    Published on:

  49. Pain is a highly prevalent symptom experienced by patients across numerous rare musculoskeletal conditions. Much remains unknown regarding the central, neurobiological processes associated with clinical pain i...

    Authors: Ke Peng, Keerthana Deepti Karunakaran, Robert Labadie, Miranda Veliu, Chandler Cheung, Arielle Lee, Paul B. Yu and Jaymin Upadhyay

    Citation: Orphanet Journal of Rare Diseases 2021 16:54

    Content type: Research

    Published on:

  50. Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that primarily manifest as blisters and erosions following mild mechanical trauma. Despite the crucial role of the parents of children with ...

    Authors: Petra J. Mauritz, Marieke Bolling, José C. Duipmans and Mariët Hagedoorn

    Citation: Orphanet Journal of Rare Diseases 2021 16:53

    Content type: Research

    Published on:

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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172