Associated Papers
Adenine phosphoribosyltransferase deficiency as a rare cause of rapidly progressive chronic kidney disease.
Alder H et al.
Journal of Nephrology, 2025
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
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.
Lau NKC et al.
Pathology, 2019
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
Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani.
Phillips CL et al.
The Embo Journal, 1999
[Adenine phosphoribosyltransferase (APRT) deficiency].
Taniguchi A
Ryoikibetsu Shokogun Shirizu, 1998
A Rare Genetic Mutation in a Stone Former.
Raj TY et al.
Indian Journal of Nephrology, 0
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