EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    3.5.4.16 | 4a-hydroxytetrahydrobiopterin dehydratase deficiency |
8830181 |
International database of tetrahydrobiopterin deficiencies. |
causal interaction
unassigned |
3
0 |
| 3.5.4.16 | 6,7-dihydropteridine reductase deficiency |
3930839 |
Differential diagnosis of tetrahydrobiopterin deficiency. |
causal interaction
unassigned |
4
0 |
| 3.5.4.16 | 6,7-dihydropteridine reductase deficiency |
8830181 |
International database of tetrahydrobiopterin deficiencies. |
causal interaction
unassigned |
3
0 |
| 3.5.4.16 | 6,7-dihydropteridine reductase deficiency |
16275037 |
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. |
diagnostic usage
unassigned |
1
0 |
| 3.5.4.16 | 6,7-dihydropteridine reductase deficiency |
21416196 |
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 3.5.4.16 | 6,7-dihydropteridine reductase deficiency |
28801146 |
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia. |
causal interaction
unassigned |
4
0 |
| 3.5.4.16 | 6-pyruvoyltetrahydropterin synthase deficiency |
8830181 |
International database of tetrahydrobiopterin deficiencies. |
causal interaction
unassigned |
3
0 |
| 3.5.4.16 | 6-pyruvoyltetrahydropterin synthase deficiency |
11238300 |
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. |
causal interaction
unassigned |
4
0 |
| 3.5.4.16 | 6-pyruvoyltetrahydropterin synthase deficiency |
16275037 |
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. |
diagnostic usage
unassigned |
1
0 |
| 3.5.4.16 | 6-pyruvoyltetrahydropterin synthase deficiency |
21416196 |
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
