EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category  |
Confidence Level |
|---|
    4.1.3.16 | Hyperoxaluria, Primary |
22115483 |
Re: Mutations in DHDPSL are Responsible for Primary Hyperoxaluria Type III. |
causal interaction
unassigned |
4
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
22391140 |
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
3
2
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
26340091 |
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3. |
causal interaction
diagnostic usage
unassigned |
3
1
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
27096395 |
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3. |
causal interaction
unassigned |
4
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
27561601 |
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 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 |
33350326 |
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease. |
causal interaction
ongoing research
unassigned |
4
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 |
26428388 |
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 4.1.3.16 | 4-hydroxy-2-oxoglutarate aldolase deficiency |
22729392 |
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism. |
causal interaction
unassigned |
4
0 |
