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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Publicado no:Gene
Main Authors: Dainese, Linda, Monin, Marie-Lorraine, Demeret, Sophie, Brochier, Guy, Froissart, Roseline, Spraul, Anne, Schiffmann, Raphael, Seilhean, Danielle, Mochel, Fanny
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier B.V. 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7126849/
https://ncbi.nlm.nih.gov/pubmed/23266647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2012.12.065
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