Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants
Keywords: ACADS; Short-chain acyl-CoA dehydrogenase [SCAD]; SCAD functional impairment; SCAD deficiency; ACADS susceptibility variants (c.511CÂ >Â T and c.625GÂ >Â A); ACADS pathogenic mutation; In situ fluxomic assessment of protein function;