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Browsing by Subject "Amino Acid Metabolism, Inborn Errors/drug therapy"

Browsing by Subject "Amino Acid Metabolism, Inborn Errors/drug therapy"

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  • Agnarsdóttir, Dagbjört; Sigurjónsdóttir, Vaka Kristín; Emilsdóttir, Arna Rut; Petersen, Erna; Sigfússon, Gunnlaugur; Rögnvaldsson, Ingólfur; Franzson, Leifur; Vernon, Hilary; Bjornsson, Hans Tomas (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 ...