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[Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene].

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

Zhang Qinghua, Zhang Chuan, Wang Yupei, Wang Weikai, Xu Ruifeng, Hui Ling, Feng Xuan, Wang Xing, Zheng Lei, Zhou Binbo, Jiang Yan, Hao Shengju

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a child with acute form of tyrosinemia type I (TYRSN1). METHODS: A child with TYRSN1 who presented at the Gansu Provincial Maternal and Child Health Care Hospital in October 2020 was selected as the subject. The child was subjected to tandem mass spectrometry (MS-MS) and urine gas chromatography-mass spectrometry (GC-MS) for the detection of...

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Identifiers

PMID: 36709935
DOI: 10.3760/cma.j.cn511379-20211119-00921

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Source receipt: pubmed, retrieved 7 Sept 2026.

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