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
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Nozue H et al.
Acta Paediatrica (oslo, Norway : 1992), 2011
Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.
Taniguchi A et al.
Nucleosides, Nucleotides & Nucleic Acids, 2004
[Adenine phosphoribosyltransferase (APRT) deficiency].
Taniguchi A
Ryoikibetsu Shokogun Shirizu, 1998
[2,8-dihydroxyadenine urolithiasis: case report and literature review].
Arancio M et al.
Urologia, 0
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