Condition: Primary hyperoxaluria type III


rs138207257 in HOGA1 gene and Primary hyperoxaluria type III PMID 20797690 2010 Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

PMID 22391140 2012 The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

PMID 22771891 2012 4-Hydroxy-2-oxoglutarate aldolase inactivity in primary hyperoxaluria type 3 and glyoxylate reductase inhibition.

PMID 21998747 2011 Structural and biochemical studies of human 4-hydroxy-2-oxoglutarate aldolase: implications for hydroxyproline metabolism in primary hyperoxaluria.

PMID 21896830 2011 Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.

PMID 25644115 2015 Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

PMID 22781098 2013 Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

PMID 22851625 2012 The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.

PMID 24563386 2015 4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.

PMID 25629080 2015 Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

PMID 27096395 2016 Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.

PMID 25972204 2015 Renal function can be impaired in children with primary hyperoxaluria type 3.

PMID 28711958 2017 Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.