Long-term renal outcomes of APRT deficiency presenting in childhood.
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ABSTRACT:
SUBMITTER: Runolfsdottir HL
PROVIDER: S-EPMC6349544 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Publications
Long-term renal outcomes of APRT deficiency presenting in childhood.
Runolfsdottir Hrafnhildur Linnet HL Palsson Runolfur R Agustsdottir Inger MSch IM Indridason Olafur S OS Edvardsson Vidar O VO
Pediatric nephrology (Berlin, Germany) 20181115 3
<h4>Background</h4>Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood.<h4>Methods</h4>The disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the disorde ...[more]
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