Search Results - "Reuser, A. J. J."

Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study by van Gelder, C. M., Poelman, E., Plug, I., Hoogeveen-Westerveld, M., van der Beek, N. A. M. E., Reuser, A. J. J., van der Ploeg, A. T.

“…Background Though enzyme-replacement therapy (ERT) with alglucosidase alfa has significantly improved the prospects for patients with classic infantile Pompe…”
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Childhood Pompe disease: clinical spectrum and genotype in 31 patients by van Capelle, C I, van der Meijden, J C, van den Hout, J M P, Jaeken, J, Baethmann, M, Voit, T, Kroos, M A, Derks, T G J, Rubio-Gozalbo, M E, Willemsen, M A, Lachmann, R H, Mengel, E, Michelakakis, H, de Jongste, J C, Reuser, A J J, van der Ploeg, A T

“…As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical…”
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Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy by 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.

“…Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated,…”
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Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients by Hagemans, M. L. C., Winkel, L. P. F., Van Doorn, P. A., Hop, W. J. C., Loonen, M. C. B., Reuser, A. J. J., Van der Ploeg, A. T.

“…Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid…”
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Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype by KROOS, M. A, POMPONIO, R. J, HALLEY, D. J. J, VAN DER PLOEG, A. T, REUSER, A. J. J, HAGEMANS, M. L, KEULEMANS, J. L. M, PHIPPS, M, DERISO, M, PALMER, R. E, AUSEMS, M. G. E. M, VAN DER BEEK, N. A. M. E, VAN DIGGELEN, O. P

“…Pompe disease (acid maltase deficiency, glycogen storage disease type II; OMIM 232300) is an autosomal recessive lysosomal storage disorder characterized by…”
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Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype by van den Berg, L. E. M., Drost, M. R., Schaart, G., de Laat, J., van Doorn, P. A., van der Ploeg, A. T., Reuser, A. J. J.

“…Pompe disease is a lysosomal storage disorder caused by acid α-glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement…”
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The natural course of non-classic Pompe's disease; a review of 225 published cases by WINKEL, Eon P. F, HAGEMANS, Marloes L. C, VAN DOORN, Pieter A, LOONEN, M. Christa B, HOP ARNOLD, Wim J. C, REUSER, J. J, VAN DER PLOEG, Ans T

“…Pompe's disease is a neuromuscular disorder caused by deficiency of lysosomal acid alpha-glucosidase. Recombinant human alpha- glucosidase is under evaluation…”
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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates by van Diggelen, O. P, Oemardien, L. F, van der Beek, N. A. M. E, Kroos, M. A, Wind, H. K, Voznyi, Y. V, Burke, D, Jackson, M, Winchester, B. G, Reuser, A. J. J

“…Enzyme analysis for Pompe disease in leukocytes has been greatly improved by the introduction of acarbose, a powerful inhibitor of interfering α-glucosidases,…”
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Enzyme therapy for Pompe disease with recombinant human α‐glucosidase from rabbit milk by Van den Hout, J. M. P., Reuser, A. J. J., Klerk, J. B. C., Arts, W. F., Smeitink, J. A. M., Van der Ploeg, A. T.

“…Pompe disease is a metabolic myopathy caused by deficiency of lysosomal acid α‐glucosidase. In this report we review the first 36 weeks of a clinical study on…”
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Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities by 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

“…Abstract Background and objective Pompe disease is an inherited metabolic disorder caused by deficiency of acid α-glucosidase. All affected neonates have a…”
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Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease by BIJVOET, A. G. A, VAN DE KAMP, E. H. M, VAN DER PLOEG, A. T, KROOS, M. A, DING, J.-H, YANG, B. Z, VISSER, P, BAKKER, C. E, VERBEET, M. P, OOSTRA, B. A, REUSER, A. J. J

“…Glycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and…”
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Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options by Oussoren, E., Brands, M.M.M.G., Ruijter, G.J.G., der Ploeg, A.T. van, Reuser, A.J.J.

“…The mucopolysaccharidoses (MPS) are prominent among the lysosomal storage diseases. The intra-lysosomal accumulation of glycosaminoglycans (GAGs) in this group…”
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Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease by van der Beek, N.A.M.E., van Capelle, C.I., van der Velden-van Etten, K.I., Hop, W.C.J., van den Berg, B., Reuser, A.J.J., van Doorn, P.A., van der Ploeg, A.T., Stam, H.

“…Respiratory insufficiency is a serious threat to patients with Pompe disease, a neuromuscular disorder caused by lysosomal acid alpha-glucosidase deficiency…”
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Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy by van der Beek, N A M E, Hagemans, M L C, van der Ploeg, A T, Reuser, A J J, van Doorn, P A

“…Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a progressive metabolic myopathy caused by deficiency of the lysosomal enzyme acid…”
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Disease severity in children and adults with Pompe disease related to age and disease duration by HAGEMANS, M. L. C, WINKEL, L. P. F, HOP, W. C. J, REUSER, A. J. J, VAN DOOM, P. A, VAN DER PLOEG, A. T

“…Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and…”
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Inconsistent reporting about dosing, dosing regimen, and immunomodulation therapy in Pompe disease by Reuser, AJJ

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Glycogenosis type II (acid maltase deficiency) by Reuser, A J, Kroos, M A, Hermans, M M, Bijvoet, A G, Verbeet, M P, Van Diggelen, O P, Kleijer, W J, Van der Ploeg, A T

“…Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal…”
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Enzyme therapy in Pompe disease: questions remain by Reuser, A.J.J.

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Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation by WISSELAAR, H. A, KROOS, M. A, HERMANS, M. M. P, VAN BEEUMEN, J, REUSER, A. J. J

“…The synthesis and posttranslational modification of lysosomal acid alpha-glucosidase were studied in a cell-free translation system and in mammalian cells…”
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Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease by 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

“…Abstract To determine the rate of disease progression in patients with late-onset Pompe disease, we collected longitudinal data on pulmonary function and…”
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