Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
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
Adenine Phosphoribosyltransferase Deficiency Due to Novel Mutation.
Ceballos-Picot I et al.
Kidney International Reports, 2019
Long-term renal outcomes of APRT deficiency presenting in childhood.
Runolfsdottir HL et al.
Pediatric Nephrology (berlin, Germany), 2019
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
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