Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.
Nguyen TTN, Khanh NN, Vu CD, Nguyen NL, Tran VK, Lien NTK, Van Tung N, Quan ND, Hien NT, Giang TTH, Xuan NT, Tao NT, Khoa TV, Nguyen HH.
Nguyen TTN, et al. Among authors: vu cd.
Front Pediatr. 2024 Dec 10;12:1494604. doi: 10.3389/fped.2024.1494604. eCollection 2024.
Front Pediatr. 2024.
PMID: 39720099
Free PMC article.