Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease()

BACKGROUND/AIMS: Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to hi...

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Detalles Bibliográficos
Autores principales: Papadopoulos, C., Papadimas, G.K., Michelakakis, H., Kararizou, E., Manta, P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121270/
https://www.ncbi.nlm.nih.gov/pubmed/27905573
http://dx.doi.org/10.1016/j.ymgmr.2013.10.002

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