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

   

  

  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)
• Research

   

  

  Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation

  Melis D, Rossi A, Pivonello R, Salerno M, Balivo F, Spadarella S, Muscogiuri G, Casa RD et al.Orphanet Journal of Rare Diseases 2015, 10:91 (29 July 2015)
• Research

   

  

  Excellent long-term outcome of renal transplantation in cystinosis patients

  Cohen C, Charbit M, Chadefaux-Vekemans B, Giral M, Garrigue V, Kessler M, Antoine C, Snanoudj R et al.Orphanet Journal of Rare Diseases 2015, 10:90 (25 July 2015)
• Review

   

  

  Idiopathic (primary) achalasia: a review

  Patel DA, Kim HP, Zifodya JS and Vaezi MFOrphanet Journal of Rare Diseases 2015, 10:89 (22 July 2015)
• Research

   

  

  Quality of life in patients with locked-in syndrome: Evolution over a 6-year period

  Rousseau MC, Baumstarck K, Alessandrini M, Blandin V, Billette de Villemeur T and Auquier POrphanet Journal of Rare Diseases 2015, 10:88 (19 July 2015)
• Research

   

  

  Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program

  van den Berg LEM, Favejee MM, Wens SCA, Kruijshaar ME, Praet SFE, Reuser AJJ, Bussmann JBJ, van Doorn PA et al.Orphanet Journal of Rare Diseases 2015, 10:87 (19 July 2015)
• Research

   

   

  Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

  Shinar Y, Tohami T, Livneh A, Schiby G, Hirshberg A, Nagar M, Goldstein I, Cohen R et al.Orphanet Journal of Rare Diseases 2015, 10:86 (30 June 2015)