Case Report: A novel hemizygous missense <i>PDHA1</i> variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.

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作者： Thi Thanh Ngan,Nguyen ^[1] ; Nguyen Ngoc,Khanh ^[2] ; Chi Dung,Vu ^[2] ; Ngoc-Lan,Nguyen ^[3] ; Van Khanh,Tran ^[3] ; Nguyen Thi Kim,Lien ^[1] ; Nguyen,Van Tung ^[1] ; Nguyen Duc,Quan ^[1] ; Nguyen Thanh,Hien ^[1] ; Tran Thi Huong,Giang ^[1] ; Nguyen Thi,Xuan ^[1] ; Nguyen Thien,Tao ^[1] ; Tran Van,Khoa ^[4] ; Huy Hoang,Nguyen ^[1]

作者单位： Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam. ^[1] Center of Endocrinology, Metabolism, Genetic/Genomics and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam. ^[2] Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam. ^[3] Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, Vietnam. ^[4]

关键词 PDHA1 Vietnamese missense variant pyruvate dehydrogenase E1-alpha deficiency whole-exome sequencing

DOI 10.3389/fped.2024.1494604

PMID 39720099

发布时间 2025-01-04

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Frontiers in pediatrics

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Case Report: A novel hemizygous missense <i>PDHA1</i> variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.

Frontiers in pediatrics

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Frontiers in pediatrics

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Case Report: A novel hemizygous missense <i>PDHA1</i> variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.

Frontiers in pediatrics

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Frontiers in pediatrics

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