Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

Niemann Pick disease type C (NPC) is a neurovisceral disorder due to mutations in NPC1 or NPC2. This review focuses on poorly characterized clinical and molecular features of early infantile form of NPC (EIF) and identified 89 cases caused by NPC1 (NPC1) and 16 by NPC2 (NPC2) mutations. Extra-neuron...

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Detalles Bibliográficos
Autores principales: Seker Yilmaz, Berna, Baruteau, Julien, Rahim, Ahad A., Gissen, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404201/
https://www.ncbi.nlm.nih.gov/pubmed/32709131
http://dx.doi.org/10.3390/ijms21145059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404201/
https://www.ncbi.nlm.nih.gov/pubmed/32709131
http://dx.doi.org/10.3390/ijms21145059

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