Electrodiagnostic testing and histopathological changes confirm peripheral nervous system myelin abnormalities in the feline model of Niemann-Pick disease type C

Niemann-Pick disease type C (NPC disease) is an incurable, neurodegenerative, autosomal recessive disease caused by mutations in either the NPC1 or NPC2 gene. These mutations affect the intracellular trafficking of lipids and cholesterol resulting in the intralysosomal accumulation of unesterified c...

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Hlavní autoři: Bagel, Jessica H., Sikora, Tracey U, Prociuk, Maria, Pesayco, Jill P., Mizisin, Andrew P., Shelton, G. Diane, Vite, Charles H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3640270/
https://ncbi.nlm.nih.gov/pubmed/23399903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e318286587f
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