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Molecular analysis of 30 Niemann–Pick type C patients from Spain

✍ Scribed by J Macías-Vidal; L Rodríguez-Pascau; G Sánchez-Ollé; M Lluch; L Vilageliu; D Grinberg; MJ Coll; the Spanish NPC Working Group

Book ID
110889107
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
752 KB
Volume
80
Category
Article
ISSN
0009-9163

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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