Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

Author:

Wraith James E.,Sedel Frédéric,Pineda Mercèdes,Wijburg Frits A.,Hendriksz Christian J.,Fahey Michael,Walterfang Mark,Patterson Marc C.,Chadha-Boreham Harbajan,Kolb Stefan A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. Chien YH, Peng SF, Yang CC, et al. (2013) Long-term efficacy of miglustat in paediatriC-patients with Niemann-Pick disease type C. J Inherit Metab Dis. 36:129–137

2. European Medicines Agency (2012) Summary of the European Public Assessment Report (EPAR) for Zavesca (miglustat). Retrieved May 18, 2012. http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Summary_for_the_public/human/000435/WC500046724.pdf

3. Orphanet Report Series, Rare Diseases collection, November 2012, Number 1: Listed in alphabetical order of disease or group of diseases, http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

4. Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F, NP-C Guidelines Working Group (2012) Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab 106:330–344

5. Pineda M, Perez-Poyato MS, O’Callaghan M et al (2010) Clinical experience with miglustat therapy in pediatriC-patients with Niemann-Pick disease type C: a case series. Mol Genet Metab 99:358–366

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