β-酮硫解酶缺乏症的质谱筛查与遗传学诊断
李建党,陈雨晗,闫磊,韩慧玲,张玉佩,张万巧
Mass spectrometry screening and genetic diagnosis of β-ketothiolase deficiency
Jiandang LI,Yuhan CHEN,Lei YAN,Huilin HAN,Yupei ZHANG,Wanqiao. ZHANG
实用医学杂志 . 2025, (3): 422 -427 .  DOI: 10.3969/j.issn.1006-5725.2025.03.018