Genetic Landscape of Segawa Disease in Spain. Long-term Treatment Outcomes.
Parkinsonism & Related Disorders（2022）
关键词
Dopa-responsive dystonia,Autosomal dominant Segawa disease,GCH1,GTPCH,Autosomal dominant GTPCH deficiency,Dystonia,Parkinsonism,Parkinson's disease,Levodopa,Dyskinesias,Founder mutation,Dopamine
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