檢索結果 - Arnold Reuser

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  1. 1
    Characterization of the human lysosomal α-glucosidase gene

    Characterization of the human lysosomal α-glucosidase gene 由 Lies H. Hoefsloot, Marianne Hoogeveen‐Westerveld, Arnold Reuser, Ben A. Oostra

    出版 1990
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  2. 2
    Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

    Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. 由 Alessandra d’Azzo, A. T. Hoogeveen, Arnold Reuser, Douglas N. Robinson, H. Galjaard

    出版 1982
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  3. 3
    Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.

    Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II. 由 Arnold Reuser, Marian A. Kroos, Ronald P.J. Oude Elferink, J. M. Tager

    出版 1985
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  4. 4
    Human lysosomal alpha-glucosidase. Characterization of the catalytic site

    Human lysosomal alpha-glucosidase. Characterization of the catalytic site 由 M M Hermans, Marian A. Kroos, J. Van Beeumen, Ben A. Oostra, Arnold Reuser

    出版 1991
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  5. 5
    Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.

    Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation. 由 H.A. Wisselaar, Marian A. Kroos, M M Hermans, J. Van Beeumen, Arnold Reuser

    出版 1993
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  6. 6
    Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

    Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. 由 Arnold Reuser, Marian A. Kroos, Rob Willemsen, Dallas M. Swallow, J. M. Tager, H. Galjaard

    出版 1987
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  7. 7
    Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

    Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. 由 L. H. Hoefsloot, Marianne Hoogeveen‐Westerveld, Marian A. Kroos, J. Van Beeumen, Arnold Reuser, B. A. Oostra

    出版 1988
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  8. 8
    Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

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

    出版 2014
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  9. 9
    Hearing loss in Pompe disease revisited: results from a study of 24 children

    Hearing loss in Pompe disease revisited: results from a study of 24 children 由 Carine I. van Capelle, André Goedegebure, Nienke C. Homans, L.J. Hoeve, Arnold Reuser, Ans T. van der Ploeg

    出版 2010
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  10. 10
    Introduction of a viral thymidine kinase gene and the human β-globin gene into developmentally multipotential mouse teratocarcinoma cells

    Introduction of a viral thymidine kinase gene and the human β-globin gene into developmentally multipotential mouse teratocarcinoma cells 由 Ángel Pellicer, Erwin F. Wagner, Adele El Kareh, Michael J. Dewey, Arnold Reuser, Saul J. Silverstein, Richard Axel, Beatrice Mintz

    出版 1980
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  11. 11
    Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

    Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating 由 Marian A. Kroos, Robert J. Pomponio, Laura Van de Vliet, Rachel Palmer, Michael Phipps, Robert van der Helm, Dicky Halley, Arnold Reuser

    出版 2008
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  12. 12
    Fatigue: an important feature of late-onset Pompe disease

    Fatigue: an important feature of late-onset Pompe disease 由 M.L.C. Hagemans, S. P. M. van Schie, A. Cecile J.W. Janssens, P.A. van Doorn, Arnold Reuser, Ans T. van der Ploeg

    出版 2007
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  13. 13
    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

    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 由 Andreas Herzog, Ralf Hartung, Arnold Reuser, Pia Hermanns, Heiko Runz, Nesrin Karabul, Seyfullah Gökce, Joachim Pohlenz, Christoph Kampmann, Christina Lampe, Michael Beck, Eugen Mengel

    出版 2012
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  14. 14
    Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

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

    出版 2011
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  15. 15
    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

    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 由 Carin M. Van Gelder, Esther Poelman, Iris Plug, Marianne Hoogeveen‐Westerveld, Nadine A. M. E. van der Beek, Arnold Reuser, Ans T. van der Ploeg

    出版 2016
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  16. 16
    Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

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

    出版 2013
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  17. 17
    Glycogenosis type II (acid maltase deficiency)

    Glycogenosis type II (acid maltase deficiency) 由 Arnold Reuser, Marian A. Kroos, M M Hermans, A. G. A. Bijvoet, Martin Ph. Verbeet, O. P. van Diggelen, Wim J. Kleijer, Ans T. van der Ploeg

    出版 1995
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  18. 18
    Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow‐up

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

    出版 2015
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  19. 19
    Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

    Characterization and localization of the FMR-1 gene product associated with fragile X syndrome 由 Coleta Verheij, Cathy Bakker, Esther de Graaff, J. L. M. Keulemans, Rob Willemsen, Annemieke J.M.H. Verkerk, H. Galjaard, Arnold Reuser, A. T. Hoogeveen, Ben A. Oostra

    出版 1993
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  20. 20
    Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

    Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase 由 Marion M. Brands, Marianne Hoogeveen‐Westerveld, Marian A. Kroos, Willemieke Nobel, George J. G. Ruijter, Lale Özkan, Iris Plug, Daniel Grinberg, Lluı̈sa Vilageliu, Dicky Halley, Ans T. van der Ploeg, Arnold Reuser

    出版 2013
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