Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

Service Announcement

We are planning to carry out routine maintenance and upgrade work on our infrastructure on Sunday, 14 June 2015 and the following weekend from Saturday, 20 to Sunday, 21 June 2015 inclusive, in each case between the hours of 0900 and 1800 GMT (0400 and 1300 EST; 1700 and 0200 Jun 15, 21, 22 SGT). Read more.

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

   

  

  A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat

  Remenova T, Morand O, Amato D, Chadha-Boreham H, Tsurutani S and Marquardt TOrphanet Journal of Rare Diseases 2015, 10:81 (19 June 2015)
• Research

   

  

  Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

  Bosch AM, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K and Regnault AOrphanet Journal of Rare Diseases 2015, 10:80 (18 June 2015)
• Research

   

  

  Clinical and biochemical characterization of four patients with mutations in ECHS1

  Ferdinandusse S, Friederich MW, Burlina A, Ruiter JPN, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK et al.Orphanet Journal of Rare Diseases 2015, 10:79 (18 June 2015)
• Research

   

  

  A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

  Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N et al.Orphanet Journal of Rare Diseases 2015, 10:78 (17 June 2015)
• Review

   

  

  Quality of life in patients with Fabry disease: a systematic review of the literature

  Arends M, Hollak CEM and Biegstraaten MOrphanet Journal of Rare Diseases 2015, 10:77 (16 June 2015)
• Letter to the Editor

   

  

  Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever

  Awad F, Georgin-Lavialle S, Brignier A, Derrieux C, Aouba A, Stankovic-Stojanovic K, Grateau G, Amselem S et al.Orphanet Journal of Rare Diseases 2015, 10:76 (16 June 2015)
• Research

   

  

  De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

  Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Melver CHW, Magoulas P, Austin E et al.Orphanet Journal of Rare Diseases 2015, 10:75 (14 June 2015)
• Letter to the Editor

   

  

  A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment

  Mandel J, Bertrand V, Lehert P, Chumakov I, Scart-Grès C, Guedj M and Cohen DOrphanet Journal of Rare Diseases 2015, 10:74 (13 June 2015)
• Review

   

  

  ALG8-CDG: novel patients and review of the literature

  Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K et al.Orphanet Journal of Rare Diseases 2015, 10:73 (12 June 2015)
• Research

   

  

  Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways

  Cai W, Jiang B, Feng T, Xue J, Yang J, Chen Z, Liu J, Wei R et al.Orphanet Journal of Rare Diseases 2015, 10:72 (11 June 2015)