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disease patient pompe disease pompe enzyme activity muscle study glucosidase lysosomal storage glycogen enzyme replacement therapy tuberin therapy van der ploeg mutation function reuser adult protein result treatment assay a-glucosidase hamartin group blood fibroblast diagnosis children analysis netherland control tissue table erasmus mc university acid α- glucosidase screening erasmu substrate replacement acid a-glucosidase expression muscle strength ficiency score month number disorder method deficiency sample variant value genet center university ploeg erasmus mc genetic rotterdam heart blood spots hearing range lysosomal storage disorders van doorn pa mouse fraction sequence position strength effect department level reuser aj model acid a-glucosidase activity figure
10 Most Recent Publications
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Enzyme replacement therapy and fatigue in adults with Pompe disease
(Article)
Güngör, D. Vries, J.M. de Plug, I. Ploeg, A.T. van der Brusse, E. Kruijshaar, M.E. Hop, W.C.J. Murawska, M. Berg, L.E.M. van den Reuser, A.J.J. Doorn, P.A. van Hagemans, M. |
2013-04-19
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Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening
(Article)
Rigter, T. Weinreich, S.S. El, C.G. van Vries, J.M. de Gelder, C.M. van Güngör, D. Reuser, A.J.J. Hagemans, M. Cornel, M.C. Ploeg, A.T. van der |
2012-11-01
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Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype
(Article)
Berg, L.E.M. van den Drost, M.R. Schaart, G. Laat, P.C.J. de Doorn, P.A. van Ploeg, A.T. van der Reuser, A.J.J. |
2012-10-11
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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: An open-label single-center study
(Article)
Vries, J.M. de Beek, N.A.M.E. van der Faber, C.G. Verschuuren, J.J. Kruijshaar, M.E. Reuser, A.J.J. Doorn, P.A. van Ploeg, A.T. van der Hop, W.C.J. Karstens, F.P. Wokke, J.H.J. Visser, M. de Engelen, B.G. van Kuks, J.B.M. Kooi, A.J. van der Notermans, N.C. |
2012-09-28
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Enzyme therapy in Pompe disease: Questions remain
(Article)
Reuser, A.J.J. |
2012-09-01
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First experience with enzyme replacement therapy during pregnancy and lactation in Pompe disease
(Article)
Vries, J.M. de Brugma, J.D.C. Özkan, L. Steegers, E.A.P. Reuser, A.J.J. Doorn, P.A. van Ploeg, A.T. van der |
2011-12-01
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Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options
(Article)
Oussoren, E. Brands, M.M.M.G. Ruijter, G.J.G. Ploeg, A.T. van der Reuser, A.J.J. |
2011-11-01
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Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy
(Article)
Gelder, C.M. van Capelle, C.I. van Ploeg, A.T. van der Ebbink, B.J. Moor-van Nugteren, I. Hout, J.M.P. van den Hakkesteegt, M.M. Doorn, P.A. van Coo, I.F.M. de Reuser, A.J.J. Gier, H.H.W. de |
2011-10-18
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Hearing in adults with Pompe disease
(Article)
Beek, N.A.M.E. van der Verschuure, H. Reuser, A.J.J. Ploeg, A.T. van der Doorn, P.A. van Poublon, R.M.L. |
2011-10-14
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The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives
(Article)
Reuser, A.J.J. Verheijen, F.W. Wuyts, B. Zhang, K. Keutzer, J. Bali, D. Diggelen, O.P. van Germain, D.P. Hwu, W.L. Lukacs, Z. Mühl, A. Olivova, P. Piraud, M. |
2011-09-01
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