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Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism

Niemann-Pick type C disease (NPC) is a genetically determined neurodegenerative metabolic disease resulting from the mutations in the NPC1 or NPC2 genes. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transport in late endosomes or lysosomes. NPC is inherited...

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Detalhes bibliográficos
Publicado no:Metab Brain Dis
Main Authors: Sitarska, Dominika, Ługowska, Agnieszka
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744384/
https://ncbi.nlm.nih.gov/pubmed/31197681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11011-019-00445-w
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