Sara Halmans
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View article: Relationship of Genotype, Phenotype, and Treatment in Dopa‐Responsive Dystonia: <scp>MDSGene</scp> Review
Relationship of Genotype, Phenotype, and Treatment in Dopa‐Responsive Dystonia: <span>MDSGene</span> Review Open
Background Pathogenic variants in 5 genes ( GCH1 , TH , PTS , SPR , and QDPR ), involved in dopamine/tetrahydrobiopterin biosynthesis or recycling, have been linked to Dopa‐responsive dystonia (DRD). Diagnosis and treatment are often delay…