Identification and functional characterization of GAA mutations in Colombian patients affected by pompe disease

"Pompe disease (PD) is a recessive metabolic disorder characterized by acid ?-glucosidase (GAA) deficiency, which results in lysosomal accumulation of glycogen in all tissues, especially in skeletal muscles. PD clinical course is mainly determined by the nature of the GAA mutations. Although ~4...

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Detalles Bibliográficos
Autores Principales: "Niño, Mónica Yasmín, Mateus, Heidi Eliana, Fonseca, Dora Janeth, Kroos, Marian A., Ospina, Sandra Yaneth, Mejía, Juan Fernando, Uribe, Jesús Alfredo, Reuser, Arnold J. J., Laissue, Paul"
Formato: Capítulo de libro (Book Chapter)
Lenguaje:Inglés (English)
Publicado: Springer 2013
Acceso en línea: