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
Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria.
Ikeda H et al.
Cen Case Reports, 2016
[The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan].
Ikeda H et al.
Hinyokika Kiyo. Acta Urologica Japonica, 2012
Adenine phosphoribosyltransferase deficiency in children.
Harambat J et al.
Pediatric Nephrology (berlin, Germany), 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
Select a paper to view details