现代医药卫生2023，Vol.39Issue(14)：2386-2390,5.DOI:10.3969/j.issn.1009-5519.2023.14.009
短/支链酰基辅酶A脱氢酶缺乏症患者临床生化及基因分析
Clinical biochemical and genetic analysis of patients with short/branched acyl-CoA dehydrogenase deficiency
赵培然 1林庆颖 1陈卫芬 1邱小龙 1徐两蒲1
作者信息
- 1. 福建省妇幼保健院医学遗传诊疗中心,福建福州350001
- 折叠
摘要
关键词
短/支链酰基辅酶A脱氢酶缺乏症/2-甲基丁基辅酶A脱氢酶缺乏症/新生儿/普查/ACADSB基因Key words
Short/branched-chain acyl-CoA dehydrogenase deficiency/2-methylbutyryl-CoA dehy-drogenase deficiency/Newborn infant/Mass Screening/ACADSB gene分类
医药卫生引用本文复制引用
赵培然,林庆颖,陈卫芬,邱小龙,徐两蒲..短/支链酰基辅酶A脱氢酶缺乏症患者临床生化及基因分析[J].现代医药卫生,2023,39(14):2386-2390,5.
