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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society for Biochemistry and Molecular Biology 2011
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Methods
On-line přístup: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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