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

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 t...

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Bibliografiske detaljer
Main Authors: Jiang, Xuntian, Sidhu, Rohini, Porter, Forbes D., Yanjanin, Nicole M., Speak, Anneliese O., te Vruchte, Danielle Taylor, Platt, Frances M., Fujiwara, Hideji, Scherrer, David E., Zhang, Jessie, Dietzen, Dennis J., Schaffer, Jean E., Ory, Daniel S.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society for Biochemistry and Molecular Biology 2011
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Methods
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3122908/
https://ncbi.nlm.nih.gov/pubmed/21518695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.D015735
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