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
Published in:Mol Genet Metab Rep
Main Authors: Curelaru, Shiri, Zehavi, Yoav, Almagor, Tal, Spiegel, Ronen
Format: Artigo
Language:Inglês
Published: Elsevier 2021
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7941164/
https://ncbi.nlm.nih.gov/pubmed/33732620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100739
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