Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

Acid sphingomyelinase (ASMase)-deficient Niemann-Pick disease (NPD) is caused by mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, resulting in accumulation of sphingomyelin in the lysosomes and secondary changes in cholesterol metabolism. We hypothesized that the oxidation product of...

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Bibliographic Details
Main Authors: Lin, Na, Zhang, Huiwen, Qiu, Wenjuan, Ye, Jun, Han, Lianshu, Wang, Yu, Gu, Xuefan
Format: Artigo
Language:Inglês
Published: The American Society for Biochemistry and Molecular Biology 2014
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Methods
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3886673/
https://ncbi.nlm.nih.gov/pubmed/24190732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.D044024
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