Refine search

Search Disease/ Diagnostics

show results
Refine your search

Search term:

<< < Results 11 - 20 of 27 > >>
EC Number
Disease
PubMed ID
Title of Publication
Category
Confidence Level
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
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
causal interaction
therapeutic application
unassigned
4
3
0
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
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
unassigned
0
Hyperoxaluria, Primary
Renal function can be impaired in children with primary hyperoxaluria type 3.
causal interaction
unassigned
2
0
Hyperoxaluria, Primary
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.
causal interaction
diagnostic usage
unassigned
3
1
0
Hyperoxaluria, Primary
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3.
causal interaction
unassigned
4
0
Hyperoxaluria, Primary
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.
causal interaction
unassigned
4
0
Hyperoxaluria, Primary
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
causal interaction
diagnostic usage
unassigned
4
1
0
Hyperoxaluria, Primary
Dihydrodipicolinate Synthase: Structure, Dynamics, Function, and Evolution.
therapeutic application
unassigned
3
0
<< < Results 11 - 20 of 27 > >>