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Methylmalonyl-CoA epimerase deficiency

Methylmalonyl-coa racemase deficiencyMcee-related methylmalonic academiaMethylmalonic aciduria III
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Review Articles from PubMed

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Methylmalonyl-CoA epimerase deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Methylmalonyl-CoA epimerase deficiency" returned 2 free, full-text research articles. First 2 results:
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Last Updated: Mar 09, 2020

Human methylmalonyl-CoA epimerase (MCEE) catalyzes the interconversion of d-methylmalonyl-CoA and l-methylmalonyl-CoA in propionate catabolism. Autosomal recessive pathogenic variations in MCEE reportedly cause methylmalonic aciduria (MMAuria) in eleven patients. We investigated a ...

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Last Updated: Nov 13, 2018

Methylmalonyl-CoA epimerase (MCE) converts d-methylmalonyl-CoA epimer to l-methylmalonyl-CoA epimer in the propionyl-CoA to succinyl-CoA pathway. Only seven cases of MCE deficiency have been described. In two cases, MCE deficiency was combined with sepiapterin reductase deficiency. ...

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