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[Clinical features and genetic analysis of a child with 3-methylglutenedioic aciduria type VII due to novel variants of CLPB gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2023

Lin Pengwu, Feng Xuan, Hao Shengju, Hui Ling, Zhang Chuan, Zhou Bingbo, Wang Lian, Shi Jingyun, Zhang Qinghua

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII. METHODS: A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected. The child and her parents were subjected to...

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PMID: 37906145
DOI: 10.3760/cma.j.cn511374-20220314-00165

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