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P05.5 Clinical phenotype and mutation analysis of Russian patients with Niemann-Pick type C disease

✍ Scribed by S. Mikhaylova; E. Zakharova; G. Rudenskay; E. Ilina; T. Boukina; D. Savvin; S. Pilia


Book ID
114360412
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
35 KB
Volume
15
Category
Article
ISSN
1090-3798

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## Abstract Niemann–Pick disease type C (NPC) is a progressive neurodegenerative disorder for which there is no effective treatment other than supportive therapy. Recently, the oral medication miglustat has been offered as a possible therapy aimed at reducing pathological substrate accumulation. Th