Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases is an open access, online journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs.

Editor-in-Chief

• Ségolène Aymé, Hopital Broussais, INSERM

Editorial Board | Instructions for authors | FAQ

Society affiliations

The official journal of Orphanet, the portal for rare diseases and orphan drugs

• Research

   

  

  Phenylketonuria screening and management in southeastern Europe ¿ survey results from 11 countries

  Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M et al.Orphanet Journal of Rare Diseases 2015, 10:68 (30 May 2015)
• Review

   

  

  Idiopathic non-cirrhotic portal hypertension: a review

  Schouten JNL, Verheij J and Seijo SOrphanet Journal of Rare Diseases 2015, 10:67 (30 May 2015)
• Research

   

  

  Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

  Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M and On behalf of the NPC Registry investigatorsOrphanet Journal of Rare Diseases 2015, 10:65 (28 May 2015)
• Research

   

  

  Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)

  Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP and Amato DOrphanet Journal of Rare Diseases 2015, 10:64 (22 May 2015)
• Research

   

  

  Prevalence of pemphigus and pemphigoid autoantibodies in the general population

  Prüßmann W, Prüßmann J, Koga H, Recke A, Iwata H, Juhl D, Görg S, Henschler R et al.Orphanet Journal of Rare Diseases 2015, 10:63 (15 May 2015)
• Research

   

  

  Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1

  Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C et al.Orphanet Journal of Rare Diseases 2015, 10:62 (13 May 2015)
• Research

   

  

  Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients

  Suzuki S, Nishikawa A, Kuwana M, Nishimura H, Watanabe Y, Nakahara J, Hayashi YK, Suzuki N et al.Orphanet Journal of Rare Diseases 2015, 10:61 (13 May 2015)
• Research

   

  

  High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

  Mizutari K, Mutai H, Namba K, Miyanaga Y, Nakano A, Arimoto Y, Masuda S, Morimoto N et al.Orphanet Journal of Rare Diseases 2015, 10:60 (13 May 2015)
• Research

   

  

  Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires

  Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K and Bosch AMOrphanet Journal of Rare Diseases 2015, 10:59 (10 May 2015)
• Review

   

  

  Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

  Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, Servais A, Barbier V et al.Orphanet Journal of Rare Diseases 2015, 10:58 (10 May 2015)

Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services:

•  An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications.
•  An encyclopedia of rare diseases in six languages.
•  An inventory of orphan drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorization.
•  A directory of specialised services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials,registries, networks, technological platforms and patient organizations, in the field of rare diseases, in each of the countries in Orphanet's network.
•  An assistance-to-diagnosis toolallowing users to search by signs and symptoms.
•  An encyclopedia of recommendations and guidelines for emergency medical care.
•  A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French.
•  A collection of thematic reports, theOrphanet Reports Series, focusing on overarching themes, directly downloadable from the website.
•  Free access to Orphanet data for research purpose is available atwww.orphadata.org.