Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.
Zaidan M et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2014
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Ceballos-Picot I et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Bollée G et al.
Journal of the American Society of Nephrology : Jasn, 2010
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