EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
3.5.2.9 | 5-oxoprolinase (atp-hydrolysing) deficiency |
6113726 |
5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle. |
causal interaction unassigned |
1 0 |
3.5.2.9 | 5-oxoprolinase (atp-hydrolysing) deficiency |
7542714 |
5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia. |
causal interaction unassigned |
4 0 |
3.5.2.9 | 5-oxoprolinase (atp-hydrolysing) deficiency |
8127060 |
5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder. |
causal interaction unassigned |
4 0 |
3.5.2.9 | 5-oxoprolinase (atp-hydrolysing) deficiency |
9453376 |
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency. |
causal interaction unassigned |
4 0 |
3.5.2.9 | 5-oxoprolinase (atp-hydrolysing) deficiency |
9590071 |
[5-Oxoprolinase deficiency] |
causal interaction unassigned |
4 0 |
3.5.2.9 | 5-oxoprolinase (atp-hydrolysing) deficiency |
9679548 |
Patients with genetic defects in the gamma-glutamyl cycle. |
causal interaction therapeutic application unassigned |
4 4 0 |
3.5.2.9 | 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 |
3.5.2.9 | 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 |
3.5.2.9 | 5-oxoprolinase (atp-hydrolysing) deficiency |
15074378 |
A newborn infant with generalized glutathione synthetase deficiency. |
causal interaction therapeutic application unassigned |
4 1 0 |
3.5.2.9 | 5-oxoprolinase (atp-hydrolysing) deficiency |
17397529 |
Inborn errors in the metabolism of glutathione. |
causal interaction diagnostic usage therapeutic application unassigned |
4 4 4 0 |