Blar i Publikasjoner fra CRIStin på forfatter "Haavik, Jan"
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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. (Peer reviewed; Journal article, 2021-11)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 ...