Article
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
Transplant immunology - 1 Nov 2016
M'dimegh Saoussen, Omezzine Asma, Hamida-Rebai Mériam Ben, Aquaviva-Bourdain Cécile, M'barek Ibtihel, Sahtout Wissal, Zellama Dorsaf, Souche Geneviéve, Achour Abdellatif, Abroug Saoussen, Bouslama Ali
Abstract excerpt
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. The aim of this study was to determine the molecular etiology of kidney transplant loss in a young Tunisian individual. We...
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