EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
    5.4.99.2 | 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 |
| 5.4.99.2 | methylmalonyl-coa mutase deficiency |
17470278 |
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. |
causal interaction
ongoing research
unassigned |
2
4
0 |
| 5.4.99.2 | Homocystinuria |
6511919 |
Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis. |
unassigned |
0 |
| 5.4.99.2 | Propionic Acidemia |
31451751 |
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism. |
causal interaction
unassigned |
4
0 |
| 5.4.99.2 | methylmalonyl-coa mutase deficiency |
32238804 |
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 5.4.99.2 | Mitochondrial Diseases |
32238804 |
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 5.4.99.2 | Metabolism, Inborn Errors |
30022420 |
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort. |
causal interaction
unassigned |
3
0 |
| 5.4.99.2 | methylmalonyl-coa mutase deficiency |
6148691 |
Benign methylmalonic aciduria. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 5.4.99.2 | methylmalonyl-coa mutase deficiency |
18940555 |
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia. |
causal interaction
unassigned |
4
0 |
| 5.4.99.2 | Maple Syrup Urine Disease |
15902548 |
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. |
diagnostic usage
therapeutic application
unassigned |
2
1
0 |
