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[Clinical characteristics and genetic analysis of a Chinese pedigree affected with thiamine pyrophosphokinase deficiency].

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

Wang Jue, Chen Xian'e, Mei Ainong

Abstract excerpt

OBJECTIVE: To investigate the clinical characteristics and genetic variant in a Chinese pedigree affected with thiamine pyrophosphokinase deficiency (TPKD). METHODS: Clinical data of the pedigree were analyzed retrospectively and summarized from the perspectives of clinical manifestation, magnetic resonance imaging (MRI), and genotype. Relevant literature was also reviewed. RESULTS: The proband, a female, has...

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PMID: 33565067
DOI: 10.3760/cma.j.cn511374-20191208-00627

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