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

   

  

  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)
• Research

   

  

  Biological parameters predictive of percent dense red blood cell decrease under hydroxyurea

  Rakotoson MG, Di Liberto G, Audureau E, Habibi A, Fauroux C, Khorgami S, Hulin A, Loric S et al.Orphanet Journal of Rare Diseases 2015, 10:57 (9 May 2015)
• Research

   

  

  CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors

  Saleh M, Burkhardt G, Benoit B, Alexandre A, Peter Y, Frederic B, Marc F, Franck P et al.Orphanet Journal of Rare Diseases 2015, 10:56 (7 May 2015)
• Letter to the Editor

   

  

  Drug repositioning can accelerate discovery of pharmacological chaperones

  Hay Mele B, Citro V, Andreotti G and Cubellis MVOrphanet Journal of Rare Diseases 2015, 10:55 (7 May 2015)
• Research

   

  

  Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits

  Mahede T, Davis G, Rutkay A, Baxendale S, Sun W, Dawkins HJS, Molster C and Graham CEOrphanet Journal of Rare Diseases 2015, 10:54 (6 May 2015)
• Position statement

   

  

  Principles for consistent value assessment and sustainable funding of orphan drugs in Europe

  Gutierrez L, Patris J, Hutchings A and Cowell WOrphanet Journal of Rare Diseases 2015, 10:53 (3 May 2015)
• Research

   

  

  No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

  Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJL, Van Esch H, Casteels I et al.Orphanet Journal of Rare Diseases 2015, 10:52 (2 May 2015)
• Review

   

  

  Rhabdomyolysis: a genetic perspective

  Scalco RS, Gardiner AR, Pitceathly RDS, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H et al.Orphanet Journal of Rare Diseases 2015, 10:51 (2 May 2015)
• Research

   

  

  Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)

  Pano A, Barbier AJ, Bielefeld B, Whiteman DAH and Amato DAOrphanet Journal of Rare Diseases 2015, 10:50 (24 April 2015)

About Orphanet

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.