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[Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2024

Ji Wei, Tian Guoli, Zhang Xiaofen, Wang Yanmin, Yang Yongchen, Zhou Zhuo, Guo Jing

Abstract excerpt

OBJECTIVE: To explore the clinical, biochemical and genetic characteristics of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes. METHODS: Two children with 17β hydroxysteroid dehydrogenase 10 (HSD17B10) deficiency and a child with β-ketothiolase deficiency (BKD) diagnosed at Shanghai Children's Hospital between 2014 and 2021 were selected as the study subjects....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38684297
DOI: 10.3760/cma.j.cn511374-20230518-00300

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