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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Sparad:
Bibliografiska uppgifter
I publikationen:Int J Mol Sci
Huvudupphovsmän: Seker Yilmaz, Berna, Baruteau, Julien, Rahim, Ahad A., Gissen, Paul
Materialtyp: Artigo
Språk:Inglês
Publicerad: MDPI 2020
Ämnen:
Review
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7404201/
https://ncbi.nlm.nih.gov/pubmed/32709131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21145059
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