Title : A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.

Pub. Date : 2011 Jul

PMID : 21518695






1 Functional Relationships(s)
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1 Recently, we demonstrated that two cholesterol oxidation products, specifically cholestane-3beta,5alpha,6beta-triol (3beta,5alpha,6beta-triol) and 7-ketocholesterol (7-KC), were markedly increased in the plasma of human NPC1 subjects, suggesting a role for these oxysterols in diagnosis of NPC1 disease and evaluation of therapeutics in clinical trials. Bromocriptine NPC intracellular cholesterol transporter 1 Homo sapiens