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Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease

BACKGROUND: A 45-year old woman of Cambodian ethnic background presented with fatal respiratory failure due to a severe diaphragmatic dysfunction. Two years before, she had developed early onset of urinary symptoms. METHODS AND RESULTS: Neuroimaging showed atrophy of the spine and medulla as well as...

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Detalles Bibliográficos
Autores principales: Dainese, Linda, Monin, Marie-Lorraine, Demeret, Sophie, Brochier, Guy, Froissart, Roseline, Spraul, Anne, Schiffmann, Raphael, Seilhean, Danielle, Mochel, Fanny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier B.V. 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7126849/
https://www.ncbi.nlm.nih.gov/pubmed/23266647
http://dx.doi.org/10.1016/j.gene.2012.12.065