EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    4.1.1.1 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
15712224 |
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. |
causal interaction
unassigned |
4
0 |
| 4.1.1.1 | Abortion, Spontaneous |
31681319 |
Human Miscarriage Is Associated With Dysregulations in Peripheral Blood-Derived Myeloid Dendritic Cell Subsets. |
unassigned |
0 |
| 4.1.1.1 | Acidosis |
9387233 |
Characterization of a gene encoding dihydrolipoamide dehydrogenase of the cyanobacterium Synechocystis sp. strain PCC 6803. |
causal interaction
unassigned |
3
0 |
| 4.1.1.1 | Acidosis, Lactic |
19171 |
Gas chromatographic and mass spectrometric studies on urinary organic acids in a patient with congenital lactic acidosis due to pyruvate decarboxylase deficiency. |
unassigned |
0 |
| 4.1.1.1 | Acidosis, Lactic |
117229 |
Urinary organic acids in a case of congenital lactic acidosis due to pyruvate decarboxylase deficiency. |
causal interaction
unassigned |
3
0 |
| 4.1.1.1 | Acidosis, Lactic |
803713 |
Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis. |
causal interaction
unassigned |
3
0 |
| 4.1.1.1 | Acidosis, Lactic |
3800988 |
Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 4.1.1.1 | Acidosis, Lactic |
3926941 |
[Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis] |
causal interaction
unassigned |
4
0 |
| 4.1.1.1 | Acidosis, Lactic |
4050860 |
Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate. |
causal interaction
therapeutic application
unassigned |
3
3
0 |
| 4.1.1.1 | Acidosis, Lactic |
6434848 |
Lactic acidaemia. |
therapeutic application
unassigned |
1
0 |
