GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters. In this study, we...

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Detalhes bibliográficos
Main Authors: Weber, Yvonne G., Storch, Alexander, Wuttke, Thomas V., Brockmann, Knut, Kempfle, Judith, Maljevic, Snezana, Margari, Lucia, Kamm, Christoph, Schneider, Susanne A., Huber, Stephan M., Pekrun, Arnulf, Roebling, Robert, Seebohm, Guiscard, Koka, Saisudha, Lang, Camelia, Kraft, Eduard, Blazevic, Dragica, Salvo-Vargas, Alberto, Fauler, Michael, Mottaghy, Felix M., Münchau, Alexander, Edwards, Mark J., Presicci, Anna, Margari, Francesco, Gasser, Thomas, Lang, Florian, Bhatia, Kailash P., Lehmann-Horn, Frank, Lerche, Holger
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2350432/
https://ncbi.nlm.nih.gov/pubmed/18451999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI34438
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