Latest Article Alert from 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

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The official journal of Orphanet, the portal for rare diseases and orphan drugs

• Letter to the Editor

   

  

  Proteus syndrome: evaluation of the immunological profile

  Lougaris V, Salpietro V, Cutrupi M, Baronio M, Moratto D, Pizzino MR, Mankad K, Briuglia S et al.Orphanet Journal of Rare Diseases 2016, 11:3 (13 January 2016)
• Research

   

  

  The involvement of patient organisations in rare disease research: a mixed methods study in Australia

  Pinto D, Martin D and Chenhall ROrphanet Journal of Rare Diseases 2016, 11:2 (12 January 2016)
• Letter to the Editor

   

  

  Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis

  Kuchinskaya E, Grigelioniene G, Hammarsjö A, Lee HR, Högberg L, Grigelionis G, Kim OH, Nishimura G et al.Orphanet Journal of Rare Diseases 2016, 11:1 (4 January 2016)
• Research

   

  

  Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

  Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Herrero AO, Fons C, Jou C et al.Orphanet Journal of Rare Diseases 2015, 10:164 (30 December 2015)
• Research

   

  

  A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

  Boy N, Heringer J, Haege G, Glahn EM, Hoffmann GF, Garbade SF, Kölker S and Burgard POrphanet Journal of Rare Diseases 2015, 10:163 (22 December 2015)
• Research

   

  

  Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile

  Pena MJ, Almeida MF, van Dam E, Ahring K, Bélanger-Quintana A, Dokoupil K, Gokmen-Ozel H, Lammardo AM et al.Orphanet Journal of Rare Diseases 2015, 10:162 (22 December 2015)
• Letter to the Editor

   

  

  Rare diseases and orphan drugs: 500 years ago

  Dooms MMOrphanet Journal of Rare Diseases 2015, 10:161 (21 December 2015)
• Research

   

  

  Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

  Abel LA, Walterfang M, Stainer MJ, Bowman EA and Velakoulis DOrphanet Journal of Rare Diseases 2015, 10:160 (21 December 2015)
• Letter to the Editor

   

  

  Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency

  Komarow HD, Sokolic R, Hershfield MS, Kohn DB, Young M, Metcalfe DD and Candotti FOrphanet Journal of Rare Diseases 2015, 10:159 (18 December 2015)
• 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