EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.2.4.1 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
24718837 |
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
1
0 |
| 1.2.4.1 | Acanthamoeba Keratitis |
28867932 |
A DNA dot hybridization model for molecular diagnosis of parasitic keratitis. |
diagnostic usage
therapeutic application
unassigned |
2
3
0 |
| 1.2.4.1 | Acidosis |
6783779 |
[Familial partial pyruvic dehydrogenase deficiency (author's transl)] |
causal interaction
unassigned |
4
0 |
| 1.2.4.1 | Acidosis |
10516124 |
Effect of induced metabolic acidosis on human skeletal muscle metabolism during exercise. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 1.2.4.1 | Acidosis, Lactic |
1293379 |
X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.2.4.1 | Acidosis, Lactic |
2376596 |
Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast. |
causal interaction
diagnostic usage
ongoing research
unassigned |
1
3
4
0 |
| 1.2.4.1 | Acidosis, Lactic |
2537010 |
Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 1.2.4.1 | Acidosis, Lactic |
3140238 |
Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency. |
causal interaction
diagnostic usage
ongoing research
therapeutic application |
4
4
2
3 |
| 1.2.4.1 | 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 |
| 1.2.4.1 | Acidosis, Lactic |
7692352 |
Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene. |
causal interaction
unassigned |
4
0 |
