A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease

Glycogen-storage disease type II, also named Pompe disease, is caused by the deficiency of the enzyme acid alpha-glucosidase, which originates lysosomal glycogen accumulation leading to progressive neuromuscular damage. Early-onset Pompe disease shows a debilitating and frequently fulminating course...

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Detalles Bibliográficos
Autores principales: ESMER, CARMEN, BECERRA-BECERRA, ROSARIO, PEÑA-ZEPEDA, CLAUDIA, BRAVO-ORO, ANTONIO
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3866899/
https://www.ncbi.nlm.nih.gov/pubmed/24399866

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