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Pediatric Nephrology (Berlin, Germany)|March 13, 2026
Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuriaVidar O Edvardsson, Hrafnhildur L Runolfsdottir, Runolfur Palsson
Archives of Osteoporosis|August 5, 2015
Gender comparison of factors associated with age-related differences in bone mineral densityHrafnhildur L Runolfsdottir, Gunnar Sigurdsson, Leifur Franzson, et al.
BMC Nephrology|August 29, 2015
Impact of nephrolithiasis on kidney functionVaka K Sigurjonsdottir, Hrafnhildur L Runolfsdottir, Olafur S Indridason, et al.
Journal of Inherited Metabolic Disease|July 4, 2025
Correlation of Plasma and Urine 2,8-Dihydroxyadenine and Adenine and Clinical Characteristics in Individuals With Adenine Phosphoribosyltransferase DeficiencyUnnur A Thorsteinsdottir, Hrafnhildur L Runolfsdottir, Vidar O Edvardsson, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|February 15, 2024
Optimization and validation of a UPLC-MS/MS assay for simultaneous quantification of 2,8-dihydroxyadenine, adenine, allopurinol, oxypurinol and febuxostat in human plasmaUnnur A Thorsteinsdottir, Hrafnhildur L Runolfsdottir, Finnur F Eiriksson, et al.
Molecular Genetics and Metabolism|August 6, 2019
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjectsHrafnhildur L Runolfsdottir, Runolfur Palsson, Unnur A Thorsteinsdottir, et al.
Urolithiasis|May 14, 2020
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case seriesHrafnhildur L Runolfsdottir, Tzu-Ling Lin, David S Goldfarb, et al.
European Journal of Internal Medicine|December 16, 2017
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trialVidar O Edvardsson, Hrafnhildur L Runolfsdottir, Unnur A Thorsteinsdottir, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|October 27, 2016
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiencyMargret Thorsteinsdottir, Unnur A Thorsteinsdottir, Finnur F Eiriksson, et al.
European Journal of Human Genetics : EJHG|March 12, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiencyHrafnhildur L Runolfsdottir, John A Sayer, Olafur S Indridason, et al.
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