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Pompe disease: Shared and unshared features of lysosomal storage disorders

Pompe disease, an inherited deficiency of lysosomal acid α-glucosidase (GAA), is a severe metabolic myopathy with a wide range of clinical manifestations. It is the first recognized lysosomal storage disorder and the first neuromuscular disorder for which a therapy (enzyme replacement) has been appr...

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Detalles Bibliográficos
Autores principales:	Lim, Jeong-A, Kakhlon, Or, Li, Lishu, Myerowitz, Rachel, Raben, Nina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Taylor & Francis 2015
Materias:	Addendum
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620984/ https://www.ncbi.nlm.nih.gov/pubmed/26619007 http://dx.doi.org/10.1080/21675511.2015.1068978

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