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Fletta eftir höfundi "Eðvarðsson, Viðar Örn"

Fletta eftir höfundi "Eðvarðsson, Viðar Örn"

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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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    Diversity of kidney care referral pathways in national child health systems of 48 European countries 
    Tasic, Velibor; Eðvarðsson, Viðar Örn; Preka, Evgenia; Prikhodina, Larisa; Stefanidis, Constantinos J.; Topaloglu, Rezan; Shtiza, Diamant; Sarkissian, Ashot; Mueller-Sacherer, Thomas; Fataliyeva, Rena; Kazyra, Ina; Levtchenko, Elena; Pokrajac, Danka; Roussinov, Dimitar; Milošević, Danko; Elia, Avraam; Seeman, Tomas; Faerch, Mia; Vainumae, Inga; Kataja, Janne; Tsimaratos, Michel; Rtskhiladze, Irakli; Hoyer, Peter F.; Reusz, George; Awan, Atif; Lotan, Danny; Peruzzi, Licia; Nigmatullina, Nazim; Beishebaeva, Nasira; Jeruma, Edite; Jankauskiene, Augustina; Niel, Olivier; Said-Conti, Valerie; Ciuntu, Angela; Pavićević, Snežana; Oosterveld, Michiel; Bjerre, Anna; Tkaczyk, Marcin; Teixeira, Ana; Lungu, Adrian C.; Tsygin, Alexey; Stojanović, Vesna; Podracka, Ludmila; Kersnik Levart, Tanja; Espino-Hernández, Mar; Brandström, Per; Sparta, Giuseppina; Alpay, Harika; Ivanov, Dmytro; Dudley, Jan; Khamzaev, Komiljon; Haffner, Dieter; Ehrich, Jochen (2024-01-16)
    Background: Primary, secondary and tertiary healthcare services in Europe create complex networks covering pediatric subspecialties, sociology, economics and politics. Two surveys of the European Society for Paediatric Nephrology (ESPN) in 1998 and ...
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    Optimization and validation of a UPLC-MS/MS assay for simultaneous quantification of 2,8-dihydroxyadenine, adenine, allopurinol, oxypurinol and febuxostat in human plasma 
    Thorsteinsdottir, Unnur A; Runólfsdóttir, Hrafnhildur L.; Eiríksson, Finnur Freyr; Ágústsd., Inger María Schweitz; Eðvarðsson, Viðar Örn; Pálsson, Runólfur; Þorsteinsdóttir, Margrét (2024-03-01)
    Adenine phosphoribosyltransferase (APRT) deficiency is a rare , hereditary disorder characterized by renal excretion of 2,8-dihydroxyadenine (DHA), leading to kidney stone formation and chronic kidney disease (CKD). Treatment with a xanthine oxidoreductase ...