换一批Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.
第一作者：
Lisa,Bleyle
第一单位：
BioAnalytical Shared Resource Facility, Department of Physiology & Pharmacology, Oregon Health & Science University (OHSU), Portland, OR, United States.
作者：
关键词
7α12αC4, 7α,12α-dihydroxy-4-cholesten-3-oneBile acid synthesisCDCA, chenodeoxycholic acidCTX, cerebrotendinous xanthomatosisCYP27A1DBS, dried bloodspotsESI-MS/MS, liquid chromatography-electrospray ionization-tandem MSGC–MS, gas chromatography–mass spectrometryIRB, institutional Review BoardKetosterolsLC-ESI-MS/MSLLOQ, lower limit of quantificationLeukodystrophyMRM, multiple reaction monitoringNewborn screeningQAO, quaternary amonoxyQCs, quality control samplesRSD, relative standard deviationS/N, signal-to-noise
DOI
10.1016/j.ymgmr.2016.02.002
PMID
27331003
发布时间
2020-09-30
基金项目
KL2 TR000152/TR/NCATS NIH HHS/United States
- 浏览49
Molecular genetics and metabolism reports
2016年7卷
11-5页
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