Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
作者:
主题词
酰基CoA脱氢酶(Acyl-CoA Dehydrogenase);决策树(Decision Trees);英格兰(England);女(雌)性(Female);基因检测(Genetic Testing);遗传变异(Genetic Variation);人类(Humans);婴儿, 新生(Infant, Newborn);脂质代谢缺陷, 先天性(Lipid Metabolism, Inborn Errors);男(雄)性(Male);新生儿筛查(Neonatal Screening);试点项目(Pilot Projects);试验预期值(Predictive Value of Tests);患病率(Prevalence);前瞻性研究(Prospective Studies);结果可重复性(Reproducibility of Results)
DOI
10.1258/jms.2011.011086
PMID
22166308
发布时间
2022-12-07
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