Thorsteinsdottir, Unnur A; Runólfsdóttir, Hrafnhildur L.; Eiríksson, Finnur Freyr; Ágústsd., Inger María Schweitz; Eðvarðsson, Viðar Örn; Pálsson, Runólfur; Þorsteinsdóttir, Margrét
(2024-03-01)
Adenine phosphoribosyltransferase (APRT) deficiency is a rare , hereditary disorder characterized by renal excretion of 2,8-dihydroxyadenine (DHA), leading to kidney stone formation and chronic kidney disease (CKD). Treatment with a xanthine oxidoreductase ...