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Branching Enzyme Deficiency: Expanding the Clinical Spectrum

IMPORTANCE: The neuromuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and a late-onset variant known as adult polyglucosan body disease. Herein, we describe 2 patients with adult acute onset of fluctuating neurological signs and brain magnetic resonance...

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Publicado en:JAMA Neurol
Autores principales: Paradas, Carmen, Akman, Hasan O., Ionete, Carolina, Lau, Heather, Riskind, Peter N., Jones, David E., Smith, Thomas W., Hirano, Michio, DiMauro, Salvatore
Formato: Artigo
Lenguaje:Inglês
Publicado: 2014
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6148323/
https://ncbi.nlm.nih.gov/pubmed/24248152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.4888
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