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

    Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency by Thi Thanh Ngan Nguyen, Nguyen Ngoc Khanh, Chi Dung Vu, Ngoc-Lan Nguyen, Van Khanh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Duc Quan, Nguyen Thanh Hien, Tran Thi Huong Giang, Nguyen Thi Xuan, Nguyen Thien Tao, Tran Van Khoa, Huy Hoang Nguyen

    Published 2024-12-01
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