Article
[Genetic aspects of primary hyperoxaluria: epidemiology, ethiology, pathogenesis, and clinical signs of the disorder].
Urologiia (Moscow, Russia : 1999) - 31 Dec 2019
Filippova T V, Svetlichnaya D V, Rudenko V I, Alyaev Y G, Tadevosyan E G, Azova M M, Subbotina T I, Gadzhieva Z K, Asanov A Y, Khamidullin K R, Pushkarev A M, Litvinova M M
Abstract excerpt
Primary hyperoxaluria is a group of rare inherited diseases characterized by impaired oxalate metabolism with the early manifestation of urolithiasis and the development of the chronic kidney disease. The mutations in the AGXT, GRHPR, HOGA1 genes are attributable for different types of primary hyperoxaluria leading to the dysfunction of specific enzymes involved in the oxalate metabolism. The article summary the...
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