EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    5.1.99.1 | Metabolism, Inborn Errors |
32443888 |
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy. |
causal interaction
unassigned |
2
0 |
| 5.1.99.1 | methylmalonyl-coa epimerase deficiency |
16752391 |
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. |
causal interaction
unassigned |
4
0 |
| 5.1.99.1 | methylmalonyl-coa epimerase deficiency |
25763508 |
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials. |
unassigned |
0 |
| 5.1.99.1 | methylmalonyl-coa epimerase deficiency |
27699154 |
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the |
causal interaction
unassigned |
4
0 |
| 5.1.99.1 | methylmalonyl-coa epimerase deficiency |
29104221 |
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria. |
causal interaction
unassigned |
4
0 |
| 5.1.99.1 | methylmalonyl-coa epimerase deficiency |
30682498 |
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 5.1.99.1 | Neoplasms |
27815170 |
Antidepressant effects of TBE-31 and MCE-1, the novel Nrf2 activators, in an inflammation model of depression. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 5.1.99.1 | Propionic Acidemia |
29104221 |
Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria. |
causal interaction
unassigned |
4
0 |
