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 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)
• Research

   

  

  Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

  Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B et al.Orphanet Journal of Rare Diseases 2015, 10:148 (17 November 2015)
• Research

   

  

  The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8

  Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, Frahm C, Kassubek J et al.Orphanet Journal of Rare Diseases 2015, 10:147 (16 November 2015)
• Research

   

  

  Initial report of the osteogenesis imperfecta adult natural history initiative

  Tosi LL, Oetgen ME, Floor MK, Huber MB, Kennelly AM, McCarter RJ, Rak MF, Simmonds BJ et al.Orphanet Journal of Rare Diseases 2015, 10:146 (14 November 2015)
• Research

   

  

  Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

  Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R et al.Orphanet Journal of Rare Diseases 2015, 10:145 (11 November 2015)
• Research

   

  

  Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia

  Liaw HR, Lee HF, Chi CS and Tsai CROrphanet Journal of Rare Diseases 2015, 10:144 (9 November 2015)
• Research

   

  

  The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis

  Kondagari GS, Fletcher JL, Cruz R, Williamson P, Hopwood JJ and Taylor RMOrphanet Journal of Rare Diseases 2015, 10:143 (4 November 2015)