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May 10, 2024

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

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

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Abstract

To explore the clinical, biochemical and genetic characteristics of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes.

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Cite This Study

Ji et al. (2024) studied this question.

synapsesocial.com/papers/68e6ab39b6db64358762e000 https://doi.org/10.3760/cma.j.cn511374-20230518-00300

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