EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.2.4.4 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
2414042 |
Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined alpha-ketoacid dehydrogenase deficiency. |
causal interaction diagnostic usage ongoing research unassigned |
4 1 3 0 |
1.2.4.4 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
3080729 |
Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity. |
causal interaction diagnostic usage ongoing research unassigned |
3 1 3 0 |
1.2.4.4 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
15712224 |
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. |
causal interaction unassigned |
4 0 |
1.2.4.4 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
20061171 |
Classical maple syrup urine disease and brain development: principles of management and formula design. |
causal interaction unassigned |
4 0 |
1.2.4.4 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
26683372 |
Developmental Defects of Caenorhabditis elegans Lacking Branched-chain ?-Ketoacid Dehydrogenase Are Mainly Caused by Monomethyl Branched-chain Fatty Acid Deficiency. |
causal interaction unassigned |
4 0 |
1.2.4.4 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
30709776 |
Mild inborn errors of metabolism in commonly used inbred mouse strains. |
causal interaction unassigned |
4 0 |
1.2.4.4 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
32154062 |
Earwax: A potentially useful medium to identify inborn errors of metabolism? |
causal interaction diagnostic usage unassigned |
4 2 0 |
1.2.4.4 | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency |
33996492 |
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation. |
causal interaction therapeutic application unassigned |
4 1 0 |
1.2.4.4 | Acidosis |
1465068 |
Metabolic acidosis accelerates whole body protein degradation and leucine oxidation by a glucocorticoid-dependent mechanism. |
causal interaction unassigned |
1 0 |
1.2.4.4 | Acidosis |
1501410 |
Chronic metabolic acidosis accelerates whole body proteolysis and oxidation in awake rats. |
causal interaction unassigned |
1 0 |