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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...

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Detaylı Bibliyografya
Yayımlandı:Anaesthesist
Asıl Yazarlar: Groß, K., Kleinschmidt, S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Medizin 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8245357/
https://ncbi.nlm.nih.gov/pubmed/33294947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00101-020-00898-0
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