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.
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism.
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.
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.
Dihydrodipicolinate Synthase: Structure, Dynamics, Function, and Evolution.
Folding Defects Leading to Primary Hyperoxaluria.
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
Hydroxyproline metabolism in a mouse model of Primary Hyperoxaluria Type 3.
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population.
Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Primary hyperoxaluria type III-a model for studying perturbations in glyoxylate metabolism.
Re: Mutations in DHDPSL are Responsible for Primary Hyperoxaluria Type III.
Re: primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Renal function can be impaired in children with primary hyperoxaluria type 3.
Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.
Urolithiasis
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Re: primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.