Long-term Renal Outcome of APRT Deficiency Presenting in Childhood

BACKGROUND: Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder causing kidney stones and chronic kidney disease (CKD). The purpose of the study was to examine the disease course in patients who presented in childhood. METHODS: The disease course of 21 (35%...

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Bibliografiske detaljer
Udgivet i:Pediatr Nephrol
Main Authors: Runolfsdottir, Hrafnhildur Linnet, Palsson, Runolfur, Agustsdottir, Inger M, Indridason, Olafur S, Edvardsson, Vidar O
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6349544/
https://ncbi.nlm.nih.gov/pubmed/30443743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-018-4109-x
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