EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
4.3.2.1 | 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 |
4.3.2.1 | amino-acid n-acetyltransferase deficiency |
15164414 |
Genetic approach to prenatal diagnosis in urea cycle defects. |
causal interaction unassigned |
4 0 |
4.3.2.1 | amino-acid n-acetyltransferase deficiency |
27215558 |
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. |
causal interaction unassigned |
4 0 |
4.3.2.1 | amino-acid n-acetyltransferase deficiency |
28888854 |
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. |
causal interaction unassigned |
4 0 |
4.3.2.1 | Amyloidosis |
16121806 |
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. |
causal interaction unassigned |
1 0 |
4.3.2.1 | Anemia |
16121806 |
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus. |
causal interaction unassigned |
1 0 |
4.3.2.1 | arginase deficiency |
15164414 |
Genetic approach to prenatal diagnosis in urea cycle defects. |
causal interaction unassigned |
4 0 |
4.3.2.1 | arginase deficiency |
27215558 |
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. |
causal interaction unassigned |
4 0 |
4.3.2.1 | arginase deficiency |
29423830 |
Biochemical markers and neuropsychological functioning in distal urea cycle disorders. |
causal interaction unassigned |
4 0 |
4.3.2.1 | arginase deficiency |
33614409 |
Physical, cognitive, and social status of patients with urea cycle disorders in Japan. |
causal interaction unassigned |
2 0 |