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Results 1 - 10 of 27 > >>
EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
Hyperoxaluria, Primary
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
unassigned
0
Hyperoxaluria, Primary
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population.
unassigned
0
Hyperoxaluria, Primary
[Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder].
diagnostic usage
unassigned
1
0
Hyperoxaluria, Primary
Folding Defects Leading to Primary Hyperoxaluria.
ongoing research
therapeutic application
unassigned
1
1
0
Hyperoxaluria, Primary
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.
causal interaction
diagnostic usage
ongoing research
therapeutic application
1
2
1
1
Hyperoxaluria, Primary
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.
causal interaction
diagnostic usage
ongoing research
unassigned
1
4
2
0
Hyperoxaluria, Primary
Renal function can be impaired in children with primary hyperoxaluria type 3.
causal interaction
unassigned
2
0
Hyperoxaluria, Primary
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.
causal interaction
ongoing research
therapeutic application
unassigned
2
2
1
0
Hyperoxaluria, Primary
Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.
diagnostic usage
ongoing research
unassigned
2
3
0
Hyperoxaluria, Primary
Regulation of human 4-hydroxy-2-oxoglutarate aldolase by pyruvate and ?-ketoglutarate: implications for primary hyperoxaluria type-3.
diagnostic usage
ongoing research
unassigned
2
3
0
Results 1 - 10 of 27 > >>