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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 |
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| Autores principales: | , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2014
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| Materias: | |
| 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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