Journal article icon

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...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1194/jlr.d015735

Authors


Journal:
Journal of lipid research More from this journal
Volume:
52
Issue:
7
Pages:
1435-1445
Publication date:
2011-07-01
DOI:
EISSN:
1539-7262
ISSN:
0022-2275
Language:
English
Keywords:
Pubs id:
pubs:185264
UUID:
uuid:f9c53a0f-e7e4-43f7-9646-1f6730f881da
Local pid:
pubs:185264
Source identifiers:
185264
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP