EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.3.8.4 | 3-hydroxyacyl-coa dehydrogenase deficiency |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction unassigned |
4 0 |
1.3.8.4 | acetyl-coa c-acetyltransferase deficiency |
7957389 |
Screening for defects of branched-chain amino acid metabolism. |
causal interaction diagnostic usage unassigned |
4 2 0 |
1.3.8.4 | acyl-coa dehydrogenase deficiency |
3892650 |
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies. |
causal interaction unassigned |
4 0 |
1.3.8.4 | acyl-coa dehydrogenase deficiency |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction unassigned |
4 0 |
1.3.8.4 | Adrenal Hyperplasia, Congenital |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction unassigned |
4 0 |
1.3.8.4 | biotinidase deficiency |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction causal interaction unassigned unassigned |
4 4 0 0 |
1.3.8.4 | Citrullinemia |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction unassigned |
4 0 |
1.3.8.4 | Congenital Hypothyroidism |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction unassigned |
4 0 |
1.3.8.4 | Cystic Fibrosis |
31241292 |
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. |
causal interaction unassigned |
4 0 |
1.3.8.4 | glutaryl-coa dehydrogenase (etf) deficiency |
3892650 |
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies. |
causal interaction unassigned |
4 0 |