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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Detalles Bibliográficos
Autores principales: Curelaru, Shiri, Zehavi, Yoav, Almagor, Tal, Spiegel, Ronen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7941164/
https://www.ncbi.nlm.nih.gov/pubmed/33732620
http://dx.doi.org/10.1016/j.ymgmr.2021.100739

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