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Page 1
Sequence variants associating with urinary biomarkers.
Benonisdottir S, Kristjansson RP, Oddsson A, Steinthorsdottir V, Mikaelsdottir E, Kehr B, Jensson BO, Arnadottir GA, Sulem G, Sveinbjornsson G, Kristmundsdottir S, Ivarsdottir EV, Tragante V, Gunnarsson B, Runolfsdottir HL, Arthur JG, Deaton AM, Eyjolfsson GI, Davidsson OB, Asselbergs FW, Hreidarsson AB, Rafnar T, Thorleifsson G, Edvardsson V, Sigurdsson G, Helgadottir A, Halldorsson BV, Masson G, Holm H, Onundarson PT, Indridason OS, Benediktsson R, Palsson R, Gudbjartsson DF, Olafsson I, Thorsteinsdottir U, Sulem P, Stefansson K. Benonisdottir S, et al. Among authors: runolfsdottir hl. Hum Mol Genet. 2019 Apr 1;28(7):1199-1211. doi: 10.1093/hmg/ddy409. Hum Mol Genet. 2019. PMID: 30476138 Free PMC article.
Impact of nephrolithiasis on kidney function.
Sigurjonsdottir VK, Runolfsdottir HL, Indridason OS, Palsson R, Edvardsson VO. Sigurjonsdottir VK, et al. Among authors: runolfsdottir hl. BMC Nephrol. 2015 Aug 28;16:149. doi: 10.1186/s12882-015-0126-1. BMC Nephrol. 2015. PMID: 26316205 Free PMC article.
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO. Runolfsdottir HL, et al. Am J Kidney Dis. 2016 Mar;67(3):431-8. doi: 10.1053/j.ajkd.2015.10.023. Epub 2015 Dec 25. Am J Kidney Dis. 2016. PMID: 26724837 Free PMC article.
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, Runolfsdottir HL, Agustsdottir IM, Oddsdottir S, Sigurdsson BB, Hardarson HK, Kamble NR, Sigurdsson ST, Edvardsson VO, Palsson R. Thorsteinsdottir M, et al. Among authors: runolfsdottir hl. J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Nov 15;1036-1037:170-177. doi: 10.1016/j.jchromb.2016.09.018. Epub 2016 Sep 14. J Chromatogr B Analyt Technol Biomed Life Sci. 2016. PMID: 27770717 Free PMC article.
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, Sch Agustsdottir IM, Oddsdottir GS, Eiriksson F, Goldfarb DS, Thorsteinsdottir M, Palsson R. Edvardsson VO, et al. Among authors: runolfsdottir hl. Eur J Intern Med. 2018 Feb;48:75-79. doi: 10.1016/j.ejim.2017.10.007. Epub 2017 Dec 12. Eur J Intern Med. 2018. PMID: 29241594 Free PMC article.
Corrigendum to "Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency" [J. Chromatogr. B 1036-1037 (2016) 170-177].
Thorsteinsdottir M, Thorsteinsdottir UA, Eiriksson FF, Runolfsdottir HL, Agustsdottir IMS, Oddsdottir S, Sigurdsson BB, Hardarson HK, Kamble NR, Sigurdsson ST, Edvardsson VO, Palsson R. Thorsteinsdottir M, et al. Among authors: runolfsdottir hl. J Chromatogr B Analyt Technol Biomed Life Sci. 2018 Aug 15;1092:530. doi: 10.1016/j.jchromb.2018.05.032. Epub 2018 Jun 1. J Chromatogr B Analyt Technol Biomed Life Sci. 2018. PMID: 29861153 Free PMC article. No abstract available.
Long-term renal outcomes of APRT deficiency presenting in childhood.
Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO. Runolfsdottir HL, et al. Pediatr Nephrol. 2019 Mar;34(3):435-442. doi: 10.1007/s00467-018-4109-x. Epub 2018 Nov 15. Pediatr Nephrol. 2019. PMID: 30443743 Free PMC article.
19 results