Multiomic analysis in fibroblasts of patients with inborn errors of cobalmin metabolism reveals concordance with clinical and metabolic variabilityResearch in context
Summary: Background: The high variability in clinical and metabolic presentations of inborn errors of cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in redken color fusion 7cr methylmalonyl-coA mutase (MUT) and methionine synthase (MS), are not well understood.They could be explained by the impaired express