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
Adenine phosphoribosyltransferase deficiency in children.
Harambat J et al.
Pediatric Nephrology (berlin, Germany), 2012
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.
Marra G et al.
Jimd Reports, 2012
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