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 ~400 dis...
Autores Principales: | , , , , , , , , |
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Formato: | Capítulo de libro (Book Chapter) |
Lenguaje: | Inglés (English) |
Publicado: |
Springer
2013
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Materias: | |
Acceso en línea: | https://repository.urosario.edu.co/handle/10336/22208 https://doi.org/10.1007/8904_2012_138 |