EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
10347277 |
Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation. |
causal interaction
unassigned |
4
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
10657369 |
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. |
causal interaction
unassigned |
4
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
11102558 |
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. |
causal interaction
unassigned |
3
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
12013986 |
[Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency] |
causal interaction
unassigned |
4
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
12112118 |
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
12555940 |
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
12696021 |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. |
causal interaction
unassigned |
4
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
12872843 |
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
14693719 |
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. |
causal interaction
unassigned |
4
0 |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
14729408 |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. |
causal interaction
unassigned |
4
0 |
