换一批Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy.
第一作者：
Chen,Wu
第一单位：
Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan.;Rare Disease Research Center, AnGes MG, Kawasaki, Kanagawa, Japan.
作者：
关键词
20:0 LysoPC, 20:0 lysophosphatidylcholine24:0 LysoPC, 24:0 lysophosphatidylcholine26:0 LysoPC, 26:0 lysophosphatidylcholine26:0-d4 LysoPC, 26:0-d4 lysophosphatidylcholineAMNAMN, adrenomyeloneuropathyCALD, cerebral X-ALDCCALD, childhood cerebral X-ALDDBS, dried blood spotsHSCT, hematopoietic stem cell transplantationIS, internal standardLysoPCs, lysophosphatidylcholinesLysophosphatidylcholinesMRI, magnetic resonance imagingMRM, multiple reaction monitoringMS/MS, tandem mass spectrometryNDBS, newborn dried blood spotsVLCFA, very long chain fatty acidsVery long chain fatty acidsX-ALDX-ALD, X-linked adrenoleukodystrophy
DOI
10.1016/j.ymgmr.2017.06.004
PMID
28725571
发布时间
2022-03-30
- 浏览44
Molecular genetics and metabolism reports
2017年12卷
115-118页
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