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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3892035/
https://ncbi.nlm.nih.gov/pubmed/24383498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-2-2
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