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Anästhesieführung bei Patienten mit Dopa-responsiver Dystonie (Segawa-Syndrom): Darstellung der Pathophysiologie, Klinik und Vorgehensweise anhand zweier Fallberichte
Segawa syndrome (dopa-responsive dystonia [DRD]) is a rare neurometabolic disorder characterized by progressive dystonia, diurnal variation and tremors. It is caused by an enzymatic defect (a mutation of the GTPCH1 gene located on chromosome 14q) in the synthesis of tetrahydrobiopterin, an important...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Medizin
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8245357/ https://www.ncbi.nlm.nih.gov/pubmed/33294947 http://dx.doi.org/10.1007/s00101-020-00898-0 |