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[Analysis of clinical features and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2024

Wang Mengqin, Wang Xi, Ma Ang, Gu Yu, Zhao Xiaotong, Zhang Yaodong, Li Dongxiao, Chen Yongxing, Wei Haiyan

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency (MADD type Ⅲ). METHODS: Clinical data of three children diagnosed with late-onset MADD at the Children's Hospital Affiliated to Zhengzhou University between March 2020 and March 2022 were retrospectively analyzed. All children were subjected to whole exome...

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PMID: 38946359
DOI: 10.3760/cma.j.cn511374-20230611-00355

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