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

   

  

  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)
• Review

   

  

  How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration

  Furlong P, Bridges JFP, Charnas L, Fallon JR, Fischer R, Flanigan KM, Franson TR, Gulati N et al.Orphanet Journal of Rare Diseases 2015, 10:82 (24 June 2015)
• 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)