Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy.
第一作者:
Archana,Natarajan
第一单位:
Metabolic Laboratory, Department of Neurochemistry, National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru 560029, India.
作者:
关键词
C24:0-carnitineC24:0-lysophosphatidylcholineC26:0-carnitineC26:0-lysophosphatidylcholineDBS, dried blood spotFIA-MS/MS, flow injection analysis- tandem mass spectrometryNewborn screeningVLCFA-LPC, very long-chain fatty acid-lysophosphatidylcholineX-ALD, X-linked adrenoleukodystrophyX-linked Adrenoleukodystrophy
DOI
10.1016/j.ymgmr.2021.100720
PMID
33552912
发布时间
2021-02-10
- 浏览0
Molecular genetics and metabolism reports
2021年26卷
100720页
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