换一批
换一批Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
第一作者：
Péter,Monostori
第一单位：
Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
作者：
主题词
氨基酸代谢障碍, 先天性(Amino Acid Metabolism, Inborn Errors);色谱法, 液相(Chromatography, Liquid);柠檬酸盐类(Citrates);女(雌)性(Female);人类(Humans);婴儿, 新生(Infant, Newborn);乳酸(Lactic Acid);男(雄)性(Male);普查(Mass Screening);质谱分析法(Mass Spectrometry);甲基丙二酸(Methylmalonic Acid);丙酸血症(Propionic Acidemia)
DOI
10.1371/journal.pone.0184897
PMID
28915261
发布时间
2018-11-13
- 浏览6
PloS one
e0184897页
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