Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
Long-term renal outcomes of APRT deficiency presenting in childhood.
Runolfsdottir HL et al.
Pediatric Nephrology (berlin, Germany), 2019
[Genetic and biochemical features of the monogenic hereditary urolithiasis].
Mikhaylenko DS et al.
Biomeditsinskaia Khimiia, 2018
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Runolfsdottir HL et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2016
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
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Valaperta R et al.
Bmc Nephrology, 2014
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Ceballos-Picot I et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Hereditary causes of kidney stones and chronic kidney disease.
Edvardsson VO et al.
Pediatric Nephrology (berlin, Germany), 2013
Adenine phosphoribosyltransferase deficiency in children.
Harambat J et al.
Pediatric Nephrology (berlin, Germany), 2012
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Bollée G et al.
Journal of the American Society of Nephrology : Jasn, 2010
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.
Deng L et al.
Molecular Genetics and Metabolism, 2001
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.
Krishnappa P et al.
Indian Journal of Urology : Iju : Journal of the Urological Society of India, 0
A Rare Genetic Mutation in a Stone Former.
Raj TY et al.
Indian Journal of Nephrology, 0