EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
6.3.2.3 | 5'-nucleotidase deficiency |
3352512 |
Enzymatic diagnosis in non-spherocytic hemolytic anemia. |
causal interaction unassigned |
4 0 |
6.3.2.3 | 5-oxoprolinase (atp-hydrolysing) deficiency |
9679548 |
Patients with genetic defects in the gamma-glutamyl cycle. |
causal interaction therapeutic application unassigned |
4 4 0 |
6.3.2.3 | 5-oxoprolinase (atp-hydrolysing) deficiency |
10094443 |
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle. |
causal interaction diagnostic usage therapeutic application unassigned |
4 2 1 0 |
6.3.2.3 | 5-oxoprolinase (atp-hydrolysing) deficiency |
10450861 |
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. |
causal interaction diagnostic usage ongoing research unassigned |
4 4 4 0 |
6.3.2.3 | 5-oxoprolinase (atp-hydrolysing) deficiency |
15074378 |
A newborn infant with generalized glutathione synthetase deficiency. |
causal interaction therapeutic application unassigned |
4 1 0 |
6.3.2.3 | 5-oxoprolinase (atp-hydrolysing) deficiency |
25851806 |
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies. |
causal interaction therapeutic application unassigned |
4 1 0 |
6.3.2.3 | 5-oxoprolinase (atp-hydrolysing) deficiency |
27477828 |
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. |
causal interaction unassigned |
4 0 |
6.3.2.3 | Acidosis |
2702756 |
Pyroglutamic acidemia in an adult patient. |
causal interaction therapeutic application unassigned |
4 1 0 |
6.3.2.3 | Acidosis |
6408309 |
Neonatal 5-oxoprolinuria: difficult-to-diagnose? |
diagnostic usage unassigned |
1 0 |
6.3.2.3 | Acidosis |
6882923 |
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. |
causal interaction unassigned |
4 0 |