EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
20597 |
A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency. |
causal interaction
ongoing research
unassigned |
4
3
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
36452 |
Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism. |
causal interaction
unassigned |
4
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
1355701 |
A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
2
4
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
1405470 |
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
1861461 |
Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
2255576 |
3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency. |
causal interaction
diagnostic usage
ongoing research
unassigned |
2
1
4
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
2881245 |
Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia. |
causal interaction
ongoing research
unassigned |
4
2
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
3778684 |
Mitochondrial acetoacetyl-CoA thiolase deficiency. |
causal interaction
unassigned |
4
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
7914250 |
6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia. |
causal interaction
unassigned |
3
0 |
| 2.3.1.9 | acetyl-coa c-acetyltransferase deficiency |
7957389 |
Screening for defects of branched-chain amino acid metabolism. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
