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The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

BACKGROUND: Pompe disease, an inherited deficiency of lysosomal acid alpha-glucosidase (GAA), is a metabolic myopathy with heterogeneous clinical presentations. Late-onset Pompe disease (LOPD) is a debilitating progressive muscle disorder that can occur anytime from early childhood to late adulthood...

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Detalles Bibliográficos
Autores principales:	Feeney, Erin J, Austin, Stephanie, Chien, Yin-Hsiu, Mandel, Hanna, Schoser, Benedikt, Prater, Sean, Hwu, Wuh-Liang, Ralston, Evelyn, Kishnani, Priya S, Raben, Nina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892035/ https://www.ncbi.nlm.nih.gov/pubmed/24383498 http://dx.doi.org/10.1186/2051-5960-2-2

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