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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
BACKGROUND: Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that the underlying pathology leading to tissue damage is caused by the enlargement and rupture of glycogen-fill...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691834/ https://www.ncbi.nlm.nih.gov/pubmed/23787031 http://dx.doi.org/10.1186/1750-1172-8-90 |