Browsing Faculty of Health Sciences by Subject "nevrometaboliske tilstander"
Now showing items 1-1 of 1
-
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 ...