Relationship of Genotype, Phenotype, and Treatment in Dopa‐Responsive Dystonia: <scp>MDSGene</scp> Review

Relationship of Genotype, Phenotype, and Treatment in Dopa‐Responsive Dystonia: <scp>MDSGene</scp> Review

Abstract 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 delayed due to high between‐ and within‐group variability...

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Hlavní autoři: Anne Weißbach, Martje G. Pauly, Rebecca Herzog, Lisa Hahn, Sara Halmans, Feline Hamami, Christina Bolte, Sarah Camargos, Beomseok Jeon, Manju A. Kurian, Thomas Opladen, Norbert Brüggemann, Hans‐Jürgen Huppertz, Inke R. König, Christine Klein, Katja Lohmann
Médium: Revisão
Jazyk:angličtina
Vydáno: 2021
On-line přístup:https://doi.org/10.1002/mds.28874
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https://doi.org/10.1002/mds.28874

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