Hydroxymethylglutaryl-CoA synthase, mitochondrial
Definition:
References:
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[1]. Mónica Ramos, et al. New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations. Eur J Med Genet. 2013 Aug;56(8):411-5. [Content Brief]
[2]. L Bouchard, et al. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. Pediatr Res. 2001 Mar;49(3):326-31. [Content Brief]
[3]. Beatriz Puisac, et al. Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. Int J Mol Sci. 2018 Mar 28;19(4):1010. [Content Brief]
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