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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Bibliographic Details
- 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
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:185264
- UUID:
-
uuid:f9c53a0f-e7e4-43f7-9646-1f6730f881da
- Local pid:
- pubs:185264
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2011
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