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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Wu, Chen, Iwamoto, Takeo, Hossain, Mohammad Arif, Akiyama, Keiko, Igarashi, Junko, Miyajima, Takashi, Eto, Yoshikatsu
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2020
Assuntos:
Research Article
Acesso em linha: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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