Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects-Reference-Cited by-同舟云学术

Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects

Published:2019-09 Issue:1-2 Volume:128 Page:144-150
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Runolfsdottir Hrafnhildur L.,Palsson Runolfur,Thorsteinsdottir Unnur A.,Indridason Olafur S.,Agustsdottir Inger M.Sch.,Oddsdottir G. Steinunn,Thorsteinsdottir Margret,Edvardsson Vidar O.

Funder

the Rare Kidney Stone Consortium

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland;Edvardsson;Am. J. Kidney Dis.,2001

2. Kidney disease in adenine phosphoribosyltransferase deficiency;Runolfsdottir;Am. J. Kidney Dis.,2016

3. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency;Bollee;J. Am. Soc. Nephrol.,2010

4. Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with APRT deficiency: a clinical trial;Edvardsson;Eur. J. Intern. Med.,2018

5. Adenine phosphoribosyltransferase deficiency;Edvardsson,2015

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Simplification of Home Urine Sampling for Measurement of 2,8‐Dihydroxyadenine in Patients with Adenine Phosphoribosyltransferase Deficiency;Patient Centric Blood Sampling and Quantitative Bioanalysis;2023-10-13

2. Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review;Nephrology;2023-08-24