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

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. Loss of this function results in the accumulation of cholesterol-related products, such as o...

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Udgivet i:PLoS One
Main Authors: Wu, Chen, Iwamoto, Takeo, Hossain, Mohammad Arif, Akiyama, Keiko, Igarashi, Junko, Miyajima, Takashi, Eto, Yoshikatsu
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2020
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7478639/
https://ncbi.nlm.nih.gov/pubmed/32898135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0238624
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