Listar por tema "Dopa-responsive dystonia"
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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
(Elsevier, 2021)Introduction In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Córdoba (Spain) due to mutation c.265C>T (p. Q89*) in the GCH1 gene. We present a retrospective multicentre study aimed ... -
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease
(Springer, 2011)Segawa disease is a rare dystonia due to autosomal dominant guanosine triphosphate cyclohydrolase I (adGTPCH) deficiency, affecting dopamine and serotonin biosynthesis. Recently, the clinical phenotype was expanded to ...