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Fletta eftir höfundi "Sigfússon, Gunnlaugur"

Fletta eftir höfundi "Sigfússon, Gunnlaugur"

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    Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB-type methylmalonic acidemia 
    Agnarsdóttir, Dagbjört; Sigurjónsdóttir, Vaka Kristín; Emilsdóttir, Arna Rut; Petersen, Erna; Sigfússon, Gunnlaugur; Rögnvaldsson, Ingólfur; Franzson, Leifur; Vernon, Hilary; Björnsson, Hans Tómas (2022-06-16)
    Background: Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. Methods: Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder ...
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    Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland 
    Sveinbjornsson, Gardar; Benediktsdóttir, Bára Dís; Sigfússon, Gunnlaugur; Norland, Kristjan; Davidsson, Olafur B.; Thorolfsdottir, Rosa B.; Tragante, Vinicius; Arnadottir, Gudny A.; Jensson, Brynjar O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Gudmundsdottir, Hallbera; Ægisdóttir, Hildur Margrét; Fridriksson, Brynjar; Thorgeirsson, Gudmundur; Magnússon, Viðar; Oddsson, Asmundur; Sulem, Patrick; Gudbjartsson, Daniel F.; Holm, Hilma; Arnar, Davíð Ottó; Stefánsson, Kári (2023-07-18)
    Background Long-QT syndrome (LQTS) is a cardiac repolarization abnormality that can lead to sudden cardiac death. The most common causes are rare coding variants in the genes KCNQ1, KCNH2, and SCN5A. The data on LQTS epidemiology are limited, and ...