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...

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Autores principales: Prater, Sean N, Patel, Trusha T, Buckley, Anne F, Mandel, Hanna, Vlodavski, Eugene, Banugaria, Suhrad G, Feeney, Erin J, Raben, Nina, Kishnani, Priya S
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3691834/
https://ncbi.nlm.nih.gov/pubmed/23787031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-90
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