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

   

  

  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)
• Research

   

   

  Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

  Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP et al.Orphanet Journal of Rare Diseases 2015, 10:85 (24 June 2015)
• Research

   

  

  A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

  Stange K, Désir J, Kakar N, Mueller TD, Budde BS, Gordon CT, Horn D, Seemann P et al.Orphanet Journal of Rare Diseases 2015, 10:84 (24 June 2015)
• Research

   

  

  Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study

  Edwards NC, Moody WE, Yuan M, Warfield AT, Cramb R, Paisey RB, Geberhiwot T and Steeds RPOrphanet Journal of Rare Diseases 2015, 10:83 (24 June 2015)