Blar i Vitenskapelige publikasjoner (HV) på emneord "nevrometaboliske tilstander"
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Personalized medicine to improve treatment of dopa-responsive dystonia—a focus on tyrosine hydroxylase deficiency
(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 ...