HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
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DOI: 10.3389/fgene.2022.880464
Abstract: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in HMGCL. To understand the natural history of this… read more here.
Keywords: hmg coa; life; lyase deficiency; lyase ... See more keywords