Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

• Research

   

  

  Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

  Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A et al.Orphanet Journal of Rare Diseases 2015, 10:22 (27 February 2015)
• Research

   

  

  Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

  Karall D, Brunner-Krainz M, Kogelnig K, Konstantopoulou V, Maier EM, Möslinger D, Plecko B, Sperl W et al.Orphanet Journal of Rare Diseases 2015, 10:21 (22 February 2015)
• Research

   

  

  Clinical characteristics and prognostic factors of adult hemophagocytic syndrome patients: a retrospective study of increasing awareness of a disease from a single-center in China

  Li F, Yang Y, Jin F, Dehoedt C, Rao J, Zhou Y, Li P, Yang G et al.Orphanet Journal of Rare Diseases 2015, 10:20 (15 February 2015)
• Research

   

  

  Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey

  Rossi-Semerano L, Fautrel B, Wendling D, Hachulla E, Galeotti C, Semerano L, Touitou I, Koné-Paut I et al.Orphanet Journal of Rare Diseases 2015, 10:19 (15 February 2015)
• Research

   

  

  A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study

  Bhattacharya K, Mundy H, Lilburn MF, Champion MP, Morley DW and Maillot FOrphanet Journal of Rare Diseases 2015, 10:18 (15 February 2015)
• Review

   

  

  Bone health in phenylketonuria: a systematic review and meta-analysis

  Demirdas S, Coakley KE, Bisschop PH, Hollak CEM, Bosch AM and Singh RHOrphanet Journal of Rare Diseases 2015, 10:17 (15 February 2015)
• Review

   

   

  Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints

  Kakkis ED, O’Donovan M, Cox G, Hayes M, Goodsaid F, Tandon PK, Furlong P, Boynton S et al.Orphanet Journal of Rare Diseases 2015, 10:16 (10 February 2015)
• Research

   

  

  OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

  Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM et al.Orphanet Journal of Rare Diseases 2015, 10:15 (10 February 2015)
• Research

   

  

  Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

  Scala I, Concolino D, Casa RD, Nastasi A, Ungaro C, Paladino S, Capaldo B, Ruoppolo M et al.Orphanet Journal of Rare Diseases 2015, 10:14 (8 February 2015)
• Letter to the Editor

   

  

  New spastic paraplegia phenotype associated to mutation ofNFU1

  Tonduti D, Dorboz I, Imbard A, Slama A, Boutron A, Pichard S, Elmaleh M, Vallée L et al.Orphanet Journal of Rare Diseases 2015, 10:13 (8 February 2015)