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

• 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)
• Position statement

   

  

  The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

  Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R et al.Orphanet Journal of Rare Diseases 2015, 10:49 (23 April 2015)