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
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
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Ikeda H et al.
Hinyokika Kiyo. Acta Urologica Japonica, 2012
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Ikeda H et al.
Hinyokika Kiyo. Acta Urologica Japonica, 2011
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