Associated Papers
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
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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