Associated Papers
Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.
Maines E et al.
International Journal of Neonatal Screening, 2024
Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features.
Diogo R et al.
Cureus, 2023
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Heuberger K et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.
Abily-Donval L et al.
International Journal of Molecular Sciences, 2017
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.
Waters PJ et al.
Molecular Genetics and Metabolism Reports, 2016
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