Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder. Perinatal and early infantile onset NPC are the most severe types of the disease. Early infantile type is characterized by a rapidly progressive neurodegenerative course, which entails significant morbi...

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Bibliographic Details
Main Authors: Shiri Curelaru, Yoav Zehavi, Tal Almagor, Ronen Spiegel
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Niemann-Pick disease Type C
Lysosomal storage disease
NPC1 gene
Miglustat
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000331

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http://www.sciencedirect.com/science/article/pii/S2214426921000331

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