Disease on EC 4.1.3.16 - 4-Hydroxy-2-oxoglutarate aldolase
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DISEASE 
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4-hydroxy-2-oxoglutarate aldolase deficiency
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
4-hydroxy-2-oxoglutarate aldolase deficiency
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism.
Hyperoxaluria
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.
Hyperoxaluria
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Hyperoxaluria, Primary
4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.
Hyperoxaluria, Primary
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.
Hyperoxaluria, Primary
Clinical characterization of primary hyperoxaluria type 3 in comparison to types 1 and 2: a retrospective cohort study.
Hyperoxaluria, Primary
Dihydrodipicolinate Synthase: Structure, Dynamics, Function, and Evolution.
Hyperoxaluria, Primary
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
Hyperoxaluria, Primary
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3.
Hyperoxaluria, Primary
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population.
Hyperoxaluria, Primary
Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Hyperoxaluria, Primary
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.
Hyperoxaluria, Primary
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.
Hyperoxaluria, Primary
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Hyperoxaluria, Primary
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Hyperoxaluria, Primary
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
Hyperoxaluria, Primary
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Hyperoxaluria, Primary
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism.
Hyperoxaluria, Primary
Re: Mutations in DHDPSL are Responsible for Primary Hyperoxaluria Type III.
Hyperoxaluria, Primary
Re: primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Hyperoxaluria, Primary
Regulation of human 4-hydroxy-2-oxoglutarate aldolase by pyruvate and ?-ketoglutarate: implications for primary hyperoxaluria type-3.
Hyperoxaluria, Primary
Renal function can be impaired in children with primary hyperoxaluria type 3.
Hyperoxaluria, Primary
Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.
Hyperoxaluria, Primary
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
Hyperoxaluria, Primary
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.
Hyperoxaluria, Primary
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.
Hyperoxaluria, Primary
[Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder].
Kidney Calculi
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.
Urolithiasis
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Urolithiasis
Re: primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
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