Browsing Faculty of Medicine by Author "Flydal, Marte I."
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Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia—A Focus on Tyrosine Hydroxylase Deficiency
Nygaard, Gyrid; Szigetvari, Peter D.; Grindheim, Ann Kari; Ruoff, Peter; Martinez, Aurora; Haavik, Jan; Kleppe, Rune; Flydal, Marte I. (Journal article; Peer reviewed, 2021)Dopa-responsive dystonia (DRD) is a rare movement disorder associated with defective dopamine synthesis. This impairment may be due to the fact of a deficiency in GTP cyclohydrolase I (GTPCHI, GCH1 gene), sepiapterin ...