A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn von Kroos, Marian A, Kirschner, Janbernd, Gellerich, Frank N, Hermans, Monique M.P, Van der Ploeg, Ans T, Reuser, Arnold J.J, Korinthenberg, Rudolf

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Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II von Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.

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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II von Hermans, Monique M.P., Leenen, Dik van, Kroos, Marian A., Beesley, Clare E., Van der Ploeg, Ans T., Sakuraba, Hitoshi, Wevers, Ron, Kleijer, Wim, Michelakakis, Helen, Kirk, Edwin P., Fletcher, Janice, Bosshard, Nils, Basel-Vanagaite, Lina, Besley, Guy, Reuser, Arnold J.J.

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Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry von Hermans, Monique M. P., Kroos, Marian A., Smeitink, Jan A. M., van der Ploeg, Ans T., Kleijer, Wim J., Reuser, Arnold J. J.

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Identification of connexin43 as a functional target for Wnt signalling von van der Heyden, M A, Rook, M B, Hermans, M M, Rijksen, G, Boonstra, J, Defize, L H, Destrée, O H

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Human connexin40 gap junction channels are modulated by cAMP von VAN RIJEN, H. V. M, VAN VEEN, T. A. B, HERMANS, M. M. P, JONGSMA, H. J

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Differential regulation of distinct types of gap junction channels by similar phosphorylating conditions von Kwak, B R, Hermans, M M, De Jonge, H R, Lohmann, S M, Jongsma, H J, Chanson, M

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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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Human lysosomal alpha-glucosidase. Characterization of the catalytic site von Hermans, M M, Kroos, M A, van Beeumen, J, Oostra, B A, Reuser, A J

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Mutation Detection in Glycogen Storage Disease Type II by RT-PCR and Automated Sequencing von Hermans, Monique M.P., van Leenen, Dik, Kroos, Marian A., Reuser, Arnold J.J.

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The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease... von Hermans, Monique M.P., De Graaff, Esther, Kroos, Marian A., Mohkamsing, Serita, Eussen, Bert J., Joosse, Marijke, Willemsen, Rob, Kleijer, Wim J., Oostra, Ben A., Reuser, Arnold J.J.

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Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene von Kroos, Marian A, van Leenen, Dik, Verbiest, Jan, Reuser, Arnold JJ, Hermans, Monique MP

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Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II von Hermans, Monique M. P., Kroos, Marian A., De Graaff, Esther, Oostra, Ben A., Reuser, Arnold J. J.

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Differential synthesis of crystallins in the developing rat eye lens von Voorter, Christina E.M., De Haard-Hoekman, Willeke A., Hermans, Monique M.P., Bloemendal, Hans, De Jong, Wilfried W.

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