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The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease

Pompe disease is an inherited lysosomal storage disease that results from a deficiency in the enzyme acid α-glucosidase (GAA), and is characterized by progressive accumulation of lysosomal glycogen primarily in heart and skeletal muscles. Recombinant human GAA (rhGAA) is the only approved enzyme rep...

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Detalles Bibliográficos
Autores principales:	Khanna, Richie, Flanagan, John J., Feng, Jessie, Soska, Rebecca, Frascella, Michelle, Pellegrino, Lee J., Lun, Yi, Guillen, Darlene, Lockhart, David J., Valenzano, Kenneth J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399870/ https://www.ncbi.nlm.nih.gov/pubmed/22815812 http://dx.doi.org/10.1371/journal.pone.0040776

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