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

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

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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 ox...

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Bibliographic Details
Main Authors: Chen Wu, Takeo Iwamoto, Mohammad Arif Hossain, Keiko Akiyama, Junko Igarashi, Takashi Miyajima, Yoshikatsu Eto, Joseph Banoub
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478639/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478639/?tool=EBI

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