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

   

  

  Naproxcinod shows significant advantages over naproxen in the mdx model of Duchenne Muscular Dystrophy

  Miglietta D, De Palma C, Sciorati C, Vergani B, Pisa V, Villa A, Ongini E and Clementi EOrphanet Journal of Rare Diseases 2015, 10:101 (22 August 2015)
• Research

   

  

  Compassionate use of orphan drugs

  Hyry HI, Manuel J, Cox TM and Roos JCPOrphanet Journal of Rare Diseases 2015, 10:100 (21 August 2015)
• Research

   

  

  Mudd’s disease (MAT I/III deficiency): a survey of data forMAT1A homozygotes and compound heterozygotes

  Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C et al.Orphanet Journal of Rare Diseases 2015, 10:99 (20 August 2015)
• Research

   

  

  A physician survey reveals differences in management of idiopathic pulmonary hemosiderosis

  Chin CIC, Kohn SL, Keens TG, Margetis MF and Kato RMOrphanet Journal of Rare Diseases 2015, 10:98 (20 August 2015)
• Review

   

  

  Heterogeneity of primary outcome measures used in clinical trials of treatments for intermediate, posterior, and panuveitis

  Denniston AK, Holland GN, Kidess A, Nussenblatt RB, Okada AA, Rosenbaum JT and Dick ADOrphanet Journal of Rare Diseases 2015, 10:97 (19 August 2015)
• Research

   

  

  EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

  Dahmani M, Ammar-Khodja F, Bonnet C, Lefèvre GM, Hardelin JP, Ibrahim H, Mallek Z and Petit COrphanet Journal of Rare Diseases 2015, 10:96 (19 August 2015)
• Research

   

  

  Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis

  Sasongko TH, Ismail NFD, Nik Abdul Malik NMA and Zabidi-Hussin ZAMHOrphanet Journal of Rare Diseases 2015, 10:95 (12 August 2015)
• Research

   

   

  Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report

  Boucher AA, Miller W, Shanley R, Ziegler R, Lund T, Raymond G and Orchard PJOrphanet Journal of Rare Diseases 2015, 10:94 (7 August 2015)
• Review

   

   

  Malignant hyperthermia: a review

  Rosenberg H, Pollock N, Schiemann A, Bulger T and Stowell KOrphanet Journal of Rare Diseases 2015, 10:93 (4 August 2015)
• Review

   

   

  The quality of economic evaluations of ultra-orphan drugs in Europe – a systematic review

  Schuller Y, Hollak CEM and Biegstraaten MOrphanet Journal of Rare Diseases 2015, 10:92 (30 July 2015)