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Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

BACKGROUND & AIMS: Aceruloplasminemia is a rare autosomal recessive neurodegenerative disease associated with brain and liver iron accumulation which typically presents with movement disorders, retinal degeneration, and diabetes mellitus. Ceruloplasmin is a multi-copper ferroxidase that is secre...

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Detalles Bibliográficos
Autores principales: Finkenstedt, Armin, Wolf, Elisabeth, Höfner, Elmar, Gasser, Bethina Isasi, Bösch, Sylvia, Bakry, Rania, Creus, Marc, Kremser, Christian, Schocke, Michael, Theurl, Milan, Moser, Patrizia, Schranz, Melanie, Bonn, Guenther, Poewe, Werner, Vogel, Wolfgang, Janecke, Andreas R., Zoller, Heinz
Formato: Texto
Lenguaje:English
Publicado: Elsevier 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987498/
https://www.ncbi.nlm.nih.gov/pubmed/20801540
http://dx.doi.org/10.1016/j.jhep.2010.04.039