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

   

  

  Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II

  Cho SY, Lee J, Ko AR, Kwak MJ, Kim S, Sohn YB, Park SW and Jin DKOrphanet Journal of Rare Diseases 2015, 10:141 (31 October 2015)
• Letter to the Editor

   

  

  Rare genetic disease in China: a call to improve clinical services

  Chopra M and Duan TOrphanet Journal of Rare Diseases 2015, 10:140 (29 October 2015)
• Research

   

  

  Review and comparison of clinical evidence submitted to support European Medicines Agency market authorization of orphan-designated oncological treatments

  Winstone J, Chadda S, Ralston S and Sajosi POrphanet Journal of Rare Diseases 2015, 10:139 (28 October 2015)
• Research

   

  

  Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

  Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP et al.Orphanet Journal of Rare Diseases 2015, 10:138 (26 October 2015)
• Research

   

  

  Mortality-related resource utilization in the inpatient care of hypoplastic left heart syndrome

  Danford DA, Karels Q, Kulkarni A, Hussain A, Xiao Y and Kutty SOrphanet Journal of Rare Diseases 2015, 10:137 (22 October 2015)
• Review

   

  

  Immunosuppressive drugs and fertility

  Leroy C, Rigot JM, Leroy M, Decanter C, Le Mapihan K, Parent AS, Le Guillou AC, Yakoub-Agha I et al.Orphanet Journal of Rare Diseases 2015, 10:136 (21 October 2015)
• Research

   

  

  Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

  Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C et al.Orphanet Journal of Rare Diseases 2015, 10:135 (15 October 2015)
• Research

   

  

  47 patients with FLNA associated periventricular nodular heterotopia

  Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A et al.Orphanet Journal of Rare Diseases 2015, 10:134 (15 October 2015)
• Research

   

  

  Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin

  Palladino G, Loizzo S, Fortuna A, Canterini S, Palombi F, Erickson RP, Mangia F and Fiorenza MTOrphanet Journal of Rare Diseases 2015, 10:133 (12 October 2015)
• Research

   

  

  Comprehensive study into the activation of the plasma enzyme systems during attacks of hereditary angioedema due to C1-inhibitor deficiency

  Csuka D, Veszeli N, Imreh É, Zotter Z, Skopál J, Prohászka Z, Varga L and Farkas HOrphanet Journal of Rare Diseases 2015, 10:132 (9 October 2015)