Urinary 2,8-Dihydroxyadenine Excretion in Patients with APRT Deficiency, Carriers and Healthy Control Subjects

BACKGROUND: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of adenine metabolism that results in excessive urinary excretion of the poorly soluble 2,8-dihydroxyadenine (DHA), leading to kidney stones and chronic kidney disease. The purpose of this study wa...

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Dades bibliogràfiques
Publicat a:Mol Genet Metab
Autors principals: Runolfsdottir, Hrafnhildur L., Palsson, Runolfur, Thorsteinsdottir, Unnur A., Indridason, Olafur S., Agustsdottir, Inger M. Sch., Oddsdottir, G. Steinunn, Thorsteinsdottir, Margret, Edvardsson, Vidar O.
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6864267/
https://ncbi.nlm.nih.gov/pubmed/31378568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.05.015
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