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Results 1 - 10 of 194 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.35'-nucleotidase deficiency 3352512 Enzymatic diagnosis in non-spherocytic hemolytic anemia. causal interaction
unassigned
4
0
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.35-oxoprolinase (atp-hydrolysing) deficiency 9679548 Patients with genetic defects in the gamma-glutamyl cycle. causal interaction
therapeutic application
unassigned
4
4
0
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.35-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
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.35-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
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.35-oxoprolinase (atp-hydrolysing) deficiency 15074378 A newborn infant with generalized glutathione synthetase deficiency. causal interaction
therapeutic application
unassigned
4
1
0
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.35-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
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.35-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
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.3Acidosis 2702756 Pyroglutamic acidemia in an adult patient. causal interaction
therapeutic application
unassigned
4
1
0
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.3Acidosis 6408309 Neonatal 5-oxoprolinuria: difficult-to-diagnose? diagnostic usage
unassigned
1
0
Show all pathways known for 6.3.2.3Display the word mapDisplay the reaction diagram Show all sequences 6.3.2.3Acidosis 6882923 Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. causal interaction
unassigned
4
0
Results 1 - 10 of 194 > >>