Title : A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS.

Pub. Date : 2020

PMID : 32898135






1 Functional Relationships(s)
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1 BACKGROUND: Niemann-Pick disease type C (NPC) is an autosomal recessive disorder caused by mutations of NPC1 or NPC2, which encode the proteins that are responsible for intracellular cholesterol trafficking. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens