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Browsing IRIS by Subject "Nýrnasteinar"

Browsing IRIS by Subject "Nýrnasteinar"

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    Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency 
    Runólfsdóttir, Hrafnhildur L.; Sayer, John A.; Indridason, Olafur S.; Eðvarðsson, Viðar Örn; Jensson, Brynjar O.; Arnadottir, Gudny A.; Gudjonsson, Sigurjon A.; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari; Pálsson, Runólfur (2021-03-11)
    Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, ...
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    Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease 
    Investigators of the Rare Kidney Stone Consortium (2021-11)
    Introduction: Because of phenotypic overlap between monogenic urinary stone diseases (USD), gene-specific analyses can result in missed diagnoses. We used targeted next generation sequencing (tNGS), including known and candidate monogenic USD genes, ...