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
The Human Glyoxalase Gene Family in Health and Disease.
Farrera DO et al.
Chemical Research in Toxicology, 2022
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
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