EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    3.1.2.4 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
17160907 |
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. |
causal interaction
unassigned |
3
0 |
| 3.1.2.4 | 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 |
| 3.1.2.4 | 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 |
| 3.1.2.4 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
25251209 |
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
3
1
0 |
| 3.1.2.4 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
26026795 |
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 3.1.2.4 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
26099313 |
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. |
causal interaction
diagnostic usage
unassigned |
2
1
0 |
| 3.1.2.4 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
26163321 |
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. |
causal interaction
unassigned |
4
0 |
| 3.1.2.4 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
27400804 |
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 3.1.2.4 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
27896122 |
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 3.1.2.4 | 3-hydroxyisobutyryl-coa hydrolase deficiency |
29703962 |
Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
