EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level  |
|---|
    4.1.3.16 | Hyperoxaluria, Primary |
31123811 |
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children. |
causal interaction
ongoing research
unassigned |
3
1
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
32003182 |
[Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder]. |
diagnostic usage
unassigned |
1
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
22771891 |
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition. |
diagnostic usage
unassigned |
2
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
22851625 |
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III. |
diagnostic usage
ongoing research
unassigned |
3
2
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
31696211 |
Regulation of human 4-hydroxy-2-oxoglutarate aldolase by pyruvate and ?-ketoglutarate: implications for primary hyperoxaluria type-3. |
ongoing research
therapeutic application
unassigned |
2
1
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
33948853 |
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants. |
ongoing research
unassigned |
2
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
20797690 |
Mutations in DHDPSL are responsible for primary hyperoxaluria type III. |
causal interaction
unassigned |
3
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
22781098 |
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. |
causal interaction
therapeutic application
unassigned |
4
3
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
28271480 |
Dihydrodipicolinate Synthase: Structure, Dynamics, Function, and Evolution. |
therapeutic application
unassigned |
3
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
33350326 |
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease. |
causal interaction
ongoing research
unassigned |
4
3
0 |
