Panminerva Medica 2021 Mar 12

DOI: 10.23736/S0031-0808.21.04320-2

lingua: Inglese

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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Panminerva Medica 2021 Mar 12

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

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