The Rasch-built Pompe-specific Activity (R-PAct) scale von van der Beek, N.A.M.E, Hagemans, M.L.C, van der Ploeg, A.T, van Doorn, P.A, Merkies, I.S.J

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Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease von Van der Beek, N.A.M.E, Hagemans, M.L.C, Reuser, A.J.J, Hop, W.C.J, Van der Ploeg, A.T, Van Doorn, P.A, Wokke, J.H.J

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Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study von van Capelle, C.I, van der Beek, N.A.M.E, Hagemans, M.L.C, Arts, W.F.M, Hop, W.C.J, Lee, P, Jaeken, J, Frohn-Mulder, I.M.E, Merkus, P.J.F.M, Corzo, D, Puga, A.C, Reuser, A.J, van der Ploeg, A.T

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Where do we stand in enzyme replacement therapy in Pompe’s disease? von van der Ploeg, A.T

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Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease von van Capelle, C.I, Winkel, L.P.F, Hagemans, M.L.C, Shapira, S.K, Arts, W.F.M, van Doorn, P.A, Hop, W.C.J, Reuser, A.J.J, van der Ploeg, A.T

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Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities von van der Beek, N.A.M.E, Soliman, O.I.I, van Capelle, C.I, Geleijnse, M.L, Vletter, W.B, Kroos, M.A, Reuser, A.J.J, Frohn-Mulder, I.M.E, van Doorn, P.A, van der Ploeg, A.T

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Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots von Oemardien, L.F., Boer, A.M., Ruijter, G.J.G., van der Ploeg, A.T., de Klerk, J.B.C., Reuser, A.J.J., Verheijen, F.W.

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G.P.129 von Wens, S.C, Ciet, P, Perez-Rovira, A, Logie, K, Salamon, E, Wielopolski, P, Bruijne, M, Kruijshaar, M.E, Tiddens, H.W, van der Beek, N.A.M, van Doorn, P.A, van der Ploeg, A.T

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T.P.19 von de Vries, J.M, Kuperus, E, Hoogeveen-Westerveld, M, Wens, S.C.A, Kroos, M.A, Kruijshaar, M.E, van Doorn, P.A, van der Ploeg, A.T, Pijnappel, W.W.M

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Cost-Effectiveness of Enzyme Replacement Therapy (ERT) with Alglucosidase Alfa in Classic-Infantile Patients with Pompe Disease von Kanters, T.A, Plug, I, Rutten-van Mölken, M.P.M.H, Redekop, W, Van der Ploeg, A.T, Hakkaart, L

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P.17.1 Phenotypic variation within 22 families with Pompe disease von Wens, S.C.A, Van Gelder, C.M, Kruijshaar, M.E, De Vries, J.M, Van der Beek, N.A.M, Reuser, A.J.J, Van Doorn, P.A, Van der Ploeg, A.T, Brusse, E

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Impact of late-onset Pompe disease on participation in daily life activities: Evaluation of the Rotterdam Handicap Scale von Hagemans, M.L.C, Laforêt, P, Hop, W.J.C, Merkies, I.S.J, Van Doorn, P.A, Reuser, A.J.J, Van der Ploeg, A.T

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Dysphagia and Speech Disorders are Common in Long Term Survivors with Classic Infantile Pompe Disease von van Gelder, C.M, van Capelle, C.I, de Gier, H.H.W, van den Hout, J.M.P, van der Ploeg, A.T

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P4.41 Alglucosidase alfa reduces non-invasive ventilation needs in late-onset Pompe disease: Post-hoc analysis from the late onset treatment study von Orlikowski, D, Falissard, B, Laforêt, P, van der Ploeg, A.T, Annane, D

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P4.40 Enzyme Replacement Therapy and prognostic factors for response: An ongoing open-label cohort study in adults with Pompe Disease von de Vries, J.M, van der Beek, N.A.M, Hagemans, M.L.C, Hop, W.C.J, Reuser, A.J.J, van Doorn, P.A, van der Ploeg, A.T

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P4.39 Enzyme replacement therapy during pregnancy and lactation in Pompe disease von de Vries, J.M, Brugma, J.C, Ozkan, L, Kroos, M.A, Steegers, E.A.P, Reuser, A.J.J, van Doorn, P.A, van der Ploeg, A.T

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P3.55 CRIM status and antibody formation in patients with classic infantile Pompe disease treated with enzyme-replacement therapy von van Gelder, C.M, Kroos, M.A, Ozkan, L, van der Ploeg, A.T, Reuser, A.J

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P3.58 Differences in clinical spectrum in families with Pompe disease von Wens, S.C.A, de Vries, J.M, van der Beek, N.A.M, Kroos, M, Reuser, A.J.J, E. Brusse, van Doorn, P.A, van der Ploeg, A.T

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P3.59 Remarkably low acid alpha-glucosidase activity in two patients with adult-onset Pompe disease von Wens, S.C.A, de Vries, J.M, van der Beek, N.A.M, Kroos, M, Reuser, A.J.J, Brusse, E, van Doorn, P.A, van der Ploeg, A.T

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P3.57 Clinical features, disease progression and prognostic factors of muscle weakness in adults with Pompe disease von van der Beek, N.A.M, de Vries, J.M, Hagemans, M.L.C, Hop, W.C.J, Kroos, M.A, Reuser, A.J.J, van der Ploeg, A.T, van Doorn, P.A

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