[HTML][HTML] A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma [S]
X Jiang, R Sidhu, FD Porter, NM Yanjanin… - Journal of lipid …, 2011 - ASBMB
Niemann-Pick type C1 (NPC1) disease is a rare, progressively fatal neurodegenerative
disease for which there are no FDA-approved therapies. A major barrier to developing new
therapies for this disorder has been the lack of a sensitive and noninvasive diagnostic test.
Recently, we demonstrated that two cholesterol oxidation products, specifically cholestane-
3β, 5α, 6β-triol (3β, 5α, 6β-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 …
disease for which there are no FDA-approved therapies. A major barrier to developing new
therapies for this disorder has been the lack of a sensitive and noninvasive diagnostic test.
Recently, we demonstrated that two cholesterol oxidation products, specifically cholestane-
3β, 5α, 6β-triol (3β, 5α, 6β-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 …