Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease von van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.

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Pompe's disease von van der Ploeg, Ans T, Dr, Reuser, Arnold JJ, PhD

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations von Herzog, Andreas, Hartung, Ralf, Reuser, Arnold J J, Hermanns, Pia, Runz, Heiko, Karabul, Nesrin, Gökce, Seyfullah, Pohlenz, Joachim, Kampmann, Christoph, Lampe, Christina, Beck, Michael, Mengel, Eugen

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How to describe the clinical spectrum in Pompe disease? von Güngör, Deniz, Reuser, Arnold J.J.

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Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy von Güngör, Deniz, de Vries, Juna M, Hop, Wim C J, Reuser, Arnold J J, van Doorn, Pieter A, van der Ploeg, Ans T, Hagemans, Marloes L C

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Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up von Güngör, Deniz, Kruijshaar, Michelle E., Plug, Iris, Rizopoulos, Dimitris, Kanters, Tim A., Wens, Stephan C. A., Reuser, Arnold J. J., van Doorn, Pieter A., van der Ploeg, Ans T.

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The Natural Course of Infantile Pompe's Disease: 20 Original Cases Compared With 133 Cases From the Literature von van den Hout, Hannerieke M. P, Hop, Wim, van Diggelen, Otto P, Smeitink, Jan A. M, Smit, G. Peter A, Poll-The, Bwee-Tien T, Bakker, Henk D, Loonen, M. Christa B, de Klerk, Johannis B. C, Reuser, Arnold J. J, van der Ploeg, Ans T

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Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype von van Til, Niek P., Stok, Merel, Aerts Kaya, Fatima S.F., de Waard, Monique C., Farahbakhshian, Elnaz, Visser, Trudi P., Kroos, Marian A., Jacobs, Edwin H., Willart, Monique A., van der Wegen, Pascal, Scholte, Bob J., Lambrecht, Bart N., Duncker, Dirk J., van der Ploeg, Ans T., Reuser, Arnold J.J., Verstegen, Monique M., Wagemaker, Gerard

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Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study von Güngör, Deniz, Kruijshaar, Michelle E, Plug, Iris, D'Agostino, Ralph B, Hagemans, Marloes L C, van Doorn, Pieter A, Reuser, Arnold J J, van der Ploeg, Ans T

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Lysosomal Storage Disease 2 Pompe's disease von VAN DER PLOEG, Ans T, REUSER, Amold J. J

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Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program von van den Berg, Linda E M, Favejee, Marein M, Wens, Stephan C A, Kruijshaar, Michelle E, Praet, Stephan F E, Reuser, Arnold J J, Bussmann, Johannes B J, van Doorn, Pieter A, van der Ploeg, Ans T

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A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds von Seppälä, Eija H, Reuser, Arnold J J, Lohi, Hannes

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Phenotypical variation within 22 families with Pompe disease von Wens, Stephan C A, van Gelder, Carin M, Kruijshaar, Michelle E, de Vries, Juna M, van der Beek, Nadine A M E, Reuser, Arnold J J, van Doorn, Pieter A, van der Ploeg, Ans T, Brusse, Esther

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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study von de Vries, Juna M, van der Beek, Nadine A M E, Hop, Wim C J, Karstens, Francois P J, Wokke, John H, de Visser, Marianne, van Engelen, Baziel G M, Kuks, Jan B M, van der Kooi, Anneke J, Notermans, Nicolette C, Faber, Catharina G, Verschuuren, Jan J G M, Kruijshaar, Michelle E, Reuser, Arnold J J, van Doorn, Pieter A, van der Ploeg, Ans T

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Rapid Ultraperformance Liquid Chromatography― Tandem Mass Spectrometry Assay for a Characteristic Glycogen-Derived Tetrasaccharide in Pompe Disease and Other Glycogen Storage Disea... von SLUITER, Wim, VAN DEN BOSCH, Jeroen C, GOUDRIAAN, Daphne A, GELDER, Carin M. Van, VRIES, Juna M. De, HUIJMANS, Jan G. M, REUSER, Arnold J. J, VAN DER PLOEG, Ans T, RUIJTER, George J. G

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Low bone mass in Pompe disease Muscular strength as a predictor of bone mineral density von VAN DEN BERG, Linda E. M, ZANDBERGEN, Adrienne A, VAN CAPELLE, Carine I, DE VRIES, Juna M, HOP, Wim C, VAN DEN HOUT, Johanna M, REUSER, Arnold J. J, CAROLA ZILLIKENS, M, VAN DER PLOEG, Ans T

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry von Reuser, Arnold J. J., Ploeg, Ans T., Chien, Yin‐Hsiu, Llerena, Juan, Abbott, Mary‐Alice, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Maruti, Sonia S., Sanson, Bernd‐Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S., on behalf of the Pompe Registry Sites

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p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? von KROOS, Marian A, MULLAART, Reinier A, REUSER, Arnold J. J, VAN VLIET, Laura, POMPONIO, Robert J, AMARTINO, Hernan, KOLODNY, Edwin H, PASTORES, Gregory M, WEVERS, Ron A, VAN DER PLOEG, Ans T, HALLEY, Dicky J. J

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PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease von Hagemans, Marloes L. C., Stigter, Rolinda L., van Capelle, Carine I., van der Beek, Nadine A. M. E., Winkel, Leon P. F., van Vliet, Laura, Hop, Wim C. J., Reuser, Arnold J. J., Beishuizen, Auke, van der Ploeg, Ans T.

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High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa von de Vries, Juna M., van der Beek, Nadine A.M.E., Kroos, Marian A., Özkan, Lale, van Doorn, Pieter A., Richards, Susan M., Sung, Crystal C.C., Brugma, Jan-Dietert C., Zandbergen, Adrienne A.M., van der Ploeg, Ans T., Reuser, Arnold J.J.

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