Runólfsdóttir, Hrafnhildur Linnet
(University of Iceland, School of Health Sciences, Faculty of Medicine, 2020-08-21)
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal
recessive disorder of adenine metabolism that results in the generation and
renal excretion of large amounts of the poorly soluble 2,8-dihydroxyadenine
(DHA), causing kidney ...