EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    4.2.1.17 | 3-hydroxyacyl-coa dehydrogenase deficiency |
12562856 |
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 4.2.1.17 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
25125611 |
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. |
causal interaction
unassigned |
4
0 |
| 4.2.1.17 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
26099313 |
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. |
causal interaction
diagnostic usage
unassigned |
2
1
0 |
| 4.2.1.17 | 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 |
| 4.2.1.17 | Acidosis |
26045367 |
Reveal genes functionally associated with ACADS by a network study. |
causal interaction
unassigned |
1
0 |
| 4.2.1.17 | Acidosis |
27221955 |
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. |
causal interaction
unassigned |
4
0 |
| 4.2.1.17 | Acidosis |
27306357 |
Erratum to: Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. |
causal interaction
unassigned |
3
0 |
| 4.2.1.17 | Acidosis, Lactic |
26920905 |
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
3
2
0 |
| 4.2.1.17 | Acidosis, Lactic |
31542992 |
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions. |
causal interaction
unassigned |
4
0 |
| 4.2.1.17 | Acidosis, Lactic |
31908952 |
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations. |
causal interaction
diagnostic usage
therapeutic application
unassigned |
4
2
1
0 |
