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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: The American Society for Biochemistry and Molecular Biology 2011
विषय:
Methods
ऑनलाइन पहुंच: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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