Condition: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency


rs137852636 in HMGCS2 gene and 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency PMID 11479731 2001 Genetic basis of mitochondrial HMG-CoA synthase deficiency.

PMID 11228257 2001 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.

PMID 12647205 2003 Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.

PMID 20346956 2010 Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.

PMID 25511235 2015 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

PMID 12072887 2002 The diagnosis of mitochondrial HMG-CoA synthase deficiency.

PMID 23751782 2013 New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.