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Journal article

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

Abstract:

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 r...

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Publication status:
Published

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Publisher copy:
10.1194/jlr.d015735

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Journal:
Journal of lipid research
Volume:
52
Issue:
7
Pages:
1435-1445
Publication date:
2011-07-01
DOI:
EISSN:
1539-7262
ISSN:
0022-2275
Source identifiers:
185264

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