Title : Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.

Pub. Date : 2009 May

PMID : 19296982






1 Functional Relationships(s)
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1 Primary hyperoxaluria type 2 is a rare autosomal recessive disease caused by mutations in the GRHPR gene, leading to an accumulation of oxalate and L-glycerate with recurrent kidney stone formation and nephrocalcinosis, and the later development of renal failure and systemic oxalate depositions. glyceric acid glyoxylate and hydroxypyruvate reductase Homo sapiens