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Browsing by Subject "Kidney stones"

Browsing by Subject "Kidney stones"

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  • 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 ...