Childhood Pompe disease: clinical spectrum and genotype in 31 patients von 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

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Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype von 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

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Clinical correlates of mathematical modeling of cortical spreading depression: Single‐cases study von Kroos, Julia M., Tommaso, Marina, Stramaglia, Sebastiano, Vecchio, Eleonora, Burdi, Nicola, Gerardo‐Giorda, Luca

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Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease von Nilsson, M.I., Kroos, M.A., Reuser, A.J., Hatcher, E., Akhtar, M., McCready, M.E., Tarnopolsky, M.A.

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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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A computational multiscale model of cortical spreading depression propagation von Gerardo-Giorda, Luca, Kroos, Julia M.

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Identification and characterization of aberrant splicing in Pompe disease using a genetic approach von Pijnappel, W, Bergsma, A, van der Ploeg, A, Hoogeveen-Westerveld, M, Halley, D, Kroos, M

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Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling von Ausems, MGEM, Verbiest, J, Hermans, MMP, Kroos, MA, Beemer, FA, Wokke, JHJ, Sandkuijl, LA, Reuser, AJJ, van der Ploeg, AT

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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates von 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

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Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease von 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

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Childhood Pompe disease: Clinical spectrum and genotype in 31 children von van Spronsen, F, Jaeken, J, Rubio-Gozalbo, M, van der Meijden, J, Willemsen, M, Baethmann, M, Lachmann, R, van Capelle, C, Mengel, E, Voit, T, Michelakakis, H, van der Hout, J, Reuser, A, Kroos, M, van der Ploeg, A

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Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease von Pittis, MG, Donnarumma, M, Montalvo, ALE, Dominissini, S, Kroos, M, Rosano, C, Stroppiano, M, Bianco, MG, Donati, MA, Parenti, G, D'Amico, A, Ciana, G, Di Rocco, M, Reuser, A, Bembi, B, Filocamo, M

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Human Acid α-Glucosidase from Rabbit Milk Has Therapeutic Effect in Mice with Glycogen Storage Disease Type II von Bijvoet, Agnes G. A., Van Hirtum, Hans, Kroos, Marian A., Van de Kamp, Esther H. M., Schoneveld, Onard, Visser, Pim, Brakenhoff, Just P. J., Weggeman, Miranda, van Corven, Emile J., Van der Ploeg, Ans T., Reuser, Arnold J. J.

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MARCO, TLR2, and CD14 are required for macrophage cytokine responses to mycobacterial trehalose dimycolate and Mycobacterium tuberculosis von Bowdish, Dawn M E, Sakamoto, Kaori, Kim, Mi-Jeong, Kroos, Mariliis, Mukhopadhyay, Subhankar, Leifer, Cynthia A, Tryggvason, Karl, Gordon, Siamon, Russell, David G

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Patient‐specific computational modeling of cortical spreading depression via diffusion tensor imaging von Kroos, Julia M., Marinelli, Isabella, Diez, Ibai, Cortes, Jesus M., Stramaglia, Sebastiano, Gerardo‐Giorda, Luca

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

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Geometry Shapes Propagation: Assessing the Presence and Absence of Cortical Symmetries through a Computational Model of Cortical Spreading Depression von Kroos, Julia M, Diez, Ibai, Cortes, Jesus M, Stramaglia, Sebastiano, Gerardo-Giorda, Luca

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Glycogenosis type II (acid maltase deficiency) von Reuser, A. J. J., Kroos, M. A., Hermans, M. M. P., Bijvoet, A. G. A., Verbeet, M. P., Van Diggelen, O. P., Kleijer, W. J., 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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P3.58 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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