Blar i Department of Biomedicine på emneord "tyrosine hydroxylase deficiency"
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Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa-responsive dystonia
(Peer reviewed; Journal article, 2014-06-03)Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-responsive dystonia and related neurological syndromes. The clinical manifestations of THD are variable, ranging from early-onset lethal ...