MULTIOMIC ANALYSIS IN FIBROBLASTS OF PATIENTS WITH INBORN ERRORS OF COBALMIN METABOLISM REVEALS CONCORDANCE WITH CLINICAL AND METABOLIC VARIABILITYRESEARCH IN CONTEXT

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

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