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

   

  

  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)
• Letter to the Editor

   

  

  Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

  Sarfati J, Bouvattier C, Bry-Gauillard H, Cartes A, Bouligand J and Young JOrphanet Journal of Rare Diseases 2015, 10:71 (9 June 2015)
• Research

   

  

  Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

  Borgwardt L, Stensland HMFR, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L et al.Orphanet Journal of Rare Diseases 2015, 10:70 (6 June 2015)
• Research

   

  

  Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

  Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno GÁ, Tran LT, Benko W, van der Knaap MS, van Spaendonk RML et al.Orphanet Journal of Rare Diseases 2015, 10:69 (5 June 2015)
• Research

   

  

  Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries

  Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M et al.Orphanet Journal of Rare Diseases 2015, 10:68 (30 May 2015)
• Review

   

  

  Idiopathic non-cirrhotic portal hypertension: a review

  Schouten JNL, Verheij J and Seijo SOrphanet Journal of Rare Diseases 2015, 10:67 (30 May 2015)
• Research

   

  

  Selective cognitive and psychiatric manifestations in Wolfram Syndrome

  Bischoff AN, Reiersen AM, Buttlaire A, Al-lozi A, Doty T, Marshall BA, Hershey T and Washington University Wolfram Syndrome Research GroupOrphanet Journal of Rare Diseases 2015, 10:66 (30 May 2015)