异戊酸盐
医学
肉碱
代谢性酸中毒
新生儿筛查
胃肠病学
内科学
复合杂合度
代谢紊乱
儿科
突变
生物
遗传学
基因
生物化学
丁酸盐
发酵
作者
Jianqiang Tan,Min Zheng,Ren Cai,Ting Zeng,Biao Yin,Yang Jinling,Wei Ba,Ronni Chang,Yongjiang Jiang,Dejian Yuan,Lizhen Pan,Lihua Huang,Haiping Ning,Jiangyan Wei,Dayu Chen
出处
期刊：PubMed
[National Institutes of Health]
日期：2022-12-10
卷期号：39 (12): 1339-1343
标识
DOI：10.3760/cma.j.cn511374-20210202-00106
摘要
The incidence of isovalerate acidemia in Liuzhou area is quite high. Screening of metabolic genetic diseases is therefore recommended for newborns with abnormal metabolism. The discovery of novel variants has enriched the mutational spectrum of the IVD gene.
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