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Panminerva Medica 2021 Mar 12

DOI: 10.23736/S0031-0808.21.04320-2

Copyright © 2021 EDIZIONI MINERVA MEDICA

language: English

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency and beta-ketothiolase deficiency: two case reports and reflections of congenital ketone body metabolism disorder

Dan MA 1, 2, 3, Dan YU 2, 4, Chengqi HE 3, 5

1 Department of Rehabilitation Medicine, West China Second University Hospital, Sichuan University, Chengdu, China; 2 Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education Chengdu, Chengdu, China; 3 West China Medical School of Sichuan University, Chengdu, China; 4 Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China; 5 Department of Rehabilitation Medicine, West China Hospital, Sichuan University, Chengdu, China


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