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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Bibliografiske detaljer
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.
Format: Artigo
Sprog:Inglês
Udgivet: Springer Netherlands 2011
Fag:
Original Article
Online adgang: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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