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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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Detalles Bibliográficos
Autores principales:	Wu, Chen, Iwamoto, Takeo, Hossain, Mohammad Arif, Akiyama, Keiko, Igarashi, Junko, Miyajima, Takashi, Eto, Yoshikatsu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478639/ https://www.ncbi.nlm.nih.gov/pubmed/32898135 http://dx.doi.org/10.1371/journal.pone.0238624

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