EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
4.3.2.2 | 4-aminobutyrate-2-oxoglutarate transaminase deficiency |
7957393 |
Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis. |
causal interaction unassigned |
4 0 |
4.3.2.2 | 5'-nucleotidase deficiency |
24972650 |
Inborn errors of purine metabolism: clinical update and therapies. |
causal interaction therapeutic application unassigned |
3 1 0 |
4.3.2.2 | adenine phosphoribosyltransferase deficiency |
8581129 |
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. |
diagnostic usage unassigned |
3 0 |
4.3.2.2 | adenylosuccinate lyase deficiency |
1405483 |
Adenylosuccinase deficiency: a newly recognized variant. |
causal interaction unassigned |
4 0 |
4.3.2.2 | adenylosuccinate lyase deficiency |
1529104 |
The purine nucleotide cycle and its molecular defects. |
causal interaction diagnostic usage therapeutic application unassigned |
3 3 1 0 |
4.3.2.2 | adenylosuccinate lyase deficiency |
1761630 |
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders. |
diagnostic usage ongoing research unassigned |
2 2 0 |
4.3.2.2 | adenylosuccinate lyase deficiency |
1872474 |
Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect. |
causal interaction diagnostic usage unassigned |
1 1 0 |
4.3.2.2 | adenylosuccinate lyase deficiency |
2563072 |
Urine test for adenylosuccinase deficiency in autistic children. |
causal interaction diagnostic usage unassigned |
3 2 0 |
4.3.2.2 | adenylosuccinate lyase deficiency |
3014834 |
Adenylosuccinase deficiency. |
causal interaction unassigned |
4 0 |
4.3.2.2 | adenylosuccinate lyase deficiency |
3234432 |
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. |
causal interaction diagnostic usage ongoing research unassigned |
4 4 2 0 |