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

   

  

  Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

  Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M and On behalf of the NPC Registry investigatorsOrphanet Journal of Rare Diseases 2015, 10:65 (28 May 2015)
• Research

   

  

  Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)

  Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP and Amato DOrphanet Journal of Rare Diseases 2015, 10:64 (22 May 2015)
• Research

   

  

  Prevalence of pemphigus and pemphigoid autoantibodies in the general population

  Prüßmann W, Prüßmann J, Koga H, Recke A, Iwata H, Juhl D, Görg S, Henschler R et al.Orphanet Journal of Rare Diseases 2015, 10:63 (15 May 2015)
• Research

   

  

  Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1

  Stirnemann J, Rose C, Serratrice C, Dalbies F, Lidove O, Masseau A, Pers YM, Baron C et al.Orphanet Journal of Rare Diseases 2015, 10:62 (13 May 2015)
• Research

   

  

  Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients

  Suzuki S, Nishikawa A, Kuwana M, Nishimura H, Watanabe Y, Nakahara J, Hayashi YK, Suzuki N et al.Orphanet Journal of Rare Diseases 2015, 10:61 (13 May 2015)
• Research

   

  

  High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

  Mizutari K, Mutai H, Namba K, Miyanaga Y, Nakano A, Arimoto Y, Masuda S, Morimoto N et al.Orphanet Journal of Rare Diseases 2015, 10:60 (13 May 2015)
• Research

   

  

  Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires

  Regnault A, Burlina A, Cunningham A, Bettiol E, Moreau-Stucker F, Benmedjahed K and Bosch AMOrphanet Journal of Rare Diseases 2015, 10:59 (10 May 2015)
• Review

   

  

  Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

  Brassier A, Gobin S, Arnoux JB, Valayannopoulos V, Habarou F, Kossorotoff M, Servais A, Barbier V et al.Orphanet Journal of Rare Diseases 2015, 10:58 (10 May 2015)
• Research

   

  

  Biological parameters predictive of percent dense red blood cell decrease under hydroxyurea

  Rakotoson MG, Di Liberto G, Audureau E, Habibi A, Fauroux C, Khorgami S, Hulin A, Loric S et al.Orphanet Journal of Rare Diseases 2015, 10:57 (9 May 2015)
• Research

   

  

  CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors

  Saleh M, Burkhardt G, Benoit B, Alexandre A, Peter Y, Frederic B, Marc F, Franck P et al.Orphanet Journal of Rare Diseases 2015, 10:56 (7 May 2015)