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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
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
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
Gradinger AB et al.
Human Mutation, 2007
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