Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia—A Focus on Tyrosine Hydroxylase Deficiency

Dopa-responsive dystonia (DRD) is a rare movement disorder associated with defective dopamine synthesis. This impairment may be due to the fact of a deficiency in GTP cyclohydrolase I (GTPCHI, GCH1 gene), sepiapterin reductase (SR), tyrosine hydroxylase (TH), or 6-pyruvoyl tetrahydrobiopterin syntha...

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Detalles Bibliográficos
Autores principales: Nygaard, Gyrid, Szigetvari, Peter D., Grindheim, Ann Kari, Ruoff, Peter, Martinez, Aurora, Haavik, Jan, Kleppe, Rune, Flydal, Marte I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8625014/
https://www.ncbi.nlm.nih.gov/pubmed/34834538
http://dx.doi.org/10.3390/jpm11111186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8625014/
https://www.ncbi.nlm.nih.gov/pubmed/34834538
http://dx.doi.org/10.3390/jpm11111186

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