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

   

  

  Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

  Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M et al.Orphanet Journal of Rare Diseases 2015, 10:158 (15 December 2015)
• Research

   

  

  Novel grading system for quantification of cystic macular lesions in Usher syndrome

  Sliesoraityte I, Peto T, Mohand-Said S and Sahel JAOrphanet Journal of Rare Diseases 2015, 10:157 (10 December 2015)
• Research

   

  

  Neutrophil activation during attacks in patients with hereditary angioedema due to C1-inhibitor deficiency

  Veszeli N, Csuka D, Zotter Z, Imreh É, Józsi M, Benedek S, Varga L and Farkas HOrphanet Journal of Rare Diseases 2015, 10:156 (10 December 2015)
• Research

   

  

  Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study

  Pommerening H, van Dullemen S, Kieslich M, Schubert R, Zielen S and Voss SOrphanet Journal of Rare Diseases 2015, 10:155 (9 December 2015)
• Research

   

  

  Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

  Vignoli A, La Briola F, Peron A, Turner K, Vannicola C, Saccani M, Magnaghi E, Scornavacca GF et al.Orphanet Journal of Rare Diseases 2015, 10:154 (2 December 2015)
• Research

   

  

  Prevalence, incidence, and age at diagnosis in Marfan Syndrome

  Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, Stochholm K, Østergaard JR et al.Orphanet Journal of Rare Diseases 2015, 10:153 (2 December 2015)
• Research

   

  

  Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta

  Lin HY, Chuang CK, Su YN, Chen MR, Chiu HC, Niu DM and Lin SPOrphanet Journal of Rare Diseases 2015, 10:152 (1 December 2015)
• Review

   

  

  Zellweger spectrum disorders: clinical overview and management approach

  Klouwer FCC, Berendse K, Ferdinandusse S, Wanders RJA, Engelen M and Poll-The BTOrphanet Journal of Rare Diseases 2015, 10:151 (1 December 2015)
• Research

   

  

  Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers

  Welters A, Lerch C, Kummer S, Marquard J, Salgin B, Mayatepek E and Meissner TOrphanet Journal of Rare Diseases 2015, 10:150 (25 November 2015)
• Research

   

  

  High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

  Van Groenendael S, Giacovazzi L, Davison F, Holtkemper O, Huang Z, Wang Q, Parkinson K, Barrett T et al.Orphanet Journal of Rare Diseases 2015, 10:149 (24 November 2015)