EC Number   |
Disease |
PubMed ID  |
Title of Publication |
Category |
Confidence Level |
|---|
    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 | 4-hydroxy-2-oxoglutarate aldolase deficiency |
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 |
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 |
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 |
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 |
25629080 |
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing. |
therapeutic application
unassigned |
1
0 |
| 4.1.3.16 | Hyperoxaluria, Primary |
25972204 |
Renal function can be impaired in children with primary hyperoxaluria type 3. |
causal interaction
unassigned |
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 |
26428388 |
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3. |
causal interaction
therapeutic application
unassigned |
4
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 |
