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[Isovaleric acidemia due to compound heterozygous variants of IVD gene in a case].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Che Fengyu, Yang Ying, Wang Zhi, Wang Guoxia, Wu Haibin, Zhang Liyu, Wei Jiakai, Zhao Yujuan, Zhao Jiangang

Abstract excerpt

OBJECTIVE: To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia. METHODS: Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and Sanger sequencing were carried out to detect potential variant of the IVD gene. RESULTS: The patient...

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PMID: 33565069
DOI: 10.3760/cma.j.cn511374-20200415-00271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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