EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
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 |
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 |
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 |
20797690 |
Mutations in DHDPSL are responsible for primary hyperoxaluria type III. |
causal interaction unassigned |
3 0 |
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 |
22729392 |
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism. |
causal interaction unassigned |
4 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 |