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Hrafnhildur L Runolfsdottir Selected Research

Adenine phosphoribosyltransferase deficiency

1/2021Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
8/2020Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
9/2019Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
1/2018Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
11/2016Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

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Hrafnhildur L Runolfsdottir Research Topics

Disease

4Chronic Renal Insufficiency
01/2021 - 11/2016
3Kidney Calculi (Kidney Stone)
08/2020 - 01/2018
2Nephrolithiasis
01/2021 - 11/2016

Drug/Important Bio-Agent (IBA)

5Adenine phosphoribosyltransferase deficiencyIBA
01/2021 - 11/2016
4Adenine PhosphoribosyltransferaseIBA
08/2020 - 11/2016
32,8-dihydroxyadenineIBA
08/2020 - 11/2016
1purineIBA
01/2021
1docosahexaenoylascorbic acid (DHA-As)IBA
08/2020
1AdenineFDA LinkGeneric
09/2019
1Allopurinol (Remid)FDA LinkGeneric
01/2018

Therapy/Procedure

1Therapeutics
01/2018