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
33707627 (PubMed )
Supplement: 41431_2020_805_MOESM1_ESM.docx
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
Successful Management of Adenine Phosphoribosyl Transferase Enzyme Deficiency in Renal Transplantation: A Case Report.
Malavade PV
Indian Journal of Nephrology, 0
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