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Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases

Featured article: Angelman syndrome: a review of the literature

Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features—movement disorders, communication impairments, behavior, and sleep. This review takes a look at some of the literature available on AS, to provide a better idea.

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OJRD reviews

Over the last decade-plus, Orphanet Journal of Rare Diseases has served as a leading home for the latest reviews on rare diseases and orphan drugs. This is very important work as often, reviews will be some of the best sources of information about rare diseases and their evolution. Please take a look at some of our most recent work in this essential vein.



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1. LETTER TO THE EDITOR

   Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children

   Hui Liu, Jinrong Liu, Huimin Li, Yun Peng and Shunying Zhao

   Published on: 26 October 2017
2. RESEARCH

   Mortality in patients with Sanfilippo syndrome

   Christine Lavery, Chris J. Hendriksz and Simon A. Jones

   Published on: 23 October 2017
3. RESEARCH

   A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

   Riccardo Papa, Matteo Doglio, Helen J. Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago…

   Published on: 18 October 2017
4. RESEARCH

   Cognitive impairment profile in adult patients with Niemann pick type C disease

   Camille Heitz, Stéphane Epelbaum and Yann Nadjar

   Published on: 18 October 2017
5. RESEARCH

   KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

   Saskia Koene, Edwin Spaans, Luc Van Bortel, Griet Van Lancker, Brant Delafontaine, Fabio Badilini, Julien Beyrath and Jan Smeitink

   Published on: 16 October 2017

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Featured series: Spinraza

One of the journals in our extended family, Gene Therapy, is featuring a special issue this month, entitled "Spinraza and advanced therapies: a stakeholder special". This issue is a vital resource for all stakeholders in the development of advanced therapies such as Spinraza, which is used to treat spinal muscular atrophy.

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