Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
Leow EH et al.
International Urology and Nephrology, 2025
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO et al.
The New England Journal of Medicine, 2023
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL et al.
European Journal of Human Genetics : Ejhg, 2021
An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency.
Nourié N et al.
Nephron, 2021
Long-term renal outcomes of APRT deficiency presenting in childhood.
Runolfsdottir HL et al.
Pediatric Nephrology (berlin, Germany), 2019
Genetics of common complex kidney stone disease: insights from genome-wide association studies.
Palsson R et al.
Urolithiasis, 2019
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Runolfsdottir HL et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2016
Common and rare variants associated with kidney stones and biochemical traits.
Oddsson A et al.
Nature Communications, 2015
Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Valaperta R et al.
Bmc Nephrology, 2014
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Ceballos-Picot I et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Hereditary causes of kidney stones and chronic kidney disease.
Edvardsson VO et al.
Pediatric Nephrology (berlin, Germany), 2013
Adenine phosphoribosyltransferase deficiency in children.
Harambat J et al.
Pediatric Nephrology (berlin, Germany), 2012
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Bollée G et al.
Journal of the American Society of Nephrology : Jasn, 2010
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.
Silva M et al.
Biochemistry, 2004
Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.
Edvardsson V et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2001
Crystal structures of adenine phosphoribosyltransferase from Leishmania donovani.
Phillips CL et al.
The Embo Journal, 1999
[2,8-dihydroxyadenine urolithiasis: case report and literature review].
Arancio M et al.
Urologia, 0
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.
Krishnappa P et al.
Indian Journal of Urology : Iju : Journal of the Urological Society of India, 0
A Rare Genetic Mutation in a Stone Former.
Raj TY et al.
Indian Journal of Nephrology, 0