EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    4.2.3.12 | 4a-hydroxytetrahydrobiopterin dehydratase deficiency |
8830181 |
International database of tetrahydrobiopterin deficiencies. |
causal interaction
unassigned |
3
0 |
| 4.2.3.12 | 4a-hydroxytetrahydrobiopterin dehydratase deficiency |
11937441 |
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients] |
diagnostic usage
unassigned |
3
0 |
| 4.2.3.12 | 6,7-dihydropteridine reductase deficiency |
8830181 |
International database of tetrahydrobiopterin deficiencies. |
causal interaction
unassigned |
3
0 |
| 4.2.3.12 | 6,7-dihydropteridine reductase deficiency |
11902126 |
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. |
diagnostic usage
ongoing research
unassigned |
2
2
0 |
| 4.2.3.12 | 6,7-dihydropteridine reductase deficiency |
16275037 |
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. |
diagnostic usage
unassigned |
1
0 |
| 4.2.3.12 | 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 |
| 4.2.3.12 | 6,7-dihydropteridine reductase deficiency |
28801146 |
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia. |
causal interaction
unassigned |
4
0 |
| 4.2.3.12 | 6,7-dihydropteridine reductase deficiency |
29116116 |
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 4.2.3.12 | 6,7-dihydropteridine reductase deficiency |
30109838 |
Outcome of Patients With Inherited Neurotransmitter Disorders. |
unassigned |
0 |
| 4.2.3.12 | 6-pyruvoyltetrahydropterin synthase deficiency |
1588012 |
Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
