Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new...

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Detalhes bibliográficos
Main Authors: van Gelder, C. M., van Capelle, C. I., Ebbink, B. J., Moor-van Nugteren, I., van den Hout, J. M. P., Hakkesteegt, M. M., van Doorn, P. A., de Coo, I. F. M., Reuser, A. J. J., de Gier, H. H. W., van der Ploeg, A. T.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2011
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3319904/
https://ncbi.nlm.nih.gov/pubmed/22008944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9404-7
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