يعرض 1 - 10 نتائج من 215 نتيجة بحث عن '"Reuser, A. J. J."', وقت الاستعلام: 1.59s تنقيح النتائج
  1. 1
    كتاب إلكتروني
    Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

    المؤلفون: Niño, Mónica YasmínAff1, Aff2, Mateus, Heidi ElianaAff1, Fonseca, Dora JanethAff1, Kroos, Marian A.Aff2, Ospina, Sandra YanethAff1, Mejía, Juan FernandoAff3, Uribe, Jesús AlfredoAff4, Reuser, Arnold J. J.Aff2, Aff5, Laissue, PaulAff1

    المساهمون: Brown, Garry, editorAffID1, Morava, Eva, editorAffID2, Peters, Verena, editorAffID3, Gibson, K Michael, editorAffID4, Zschocke, Johannes, editorAffID5

    المصدر: JIMD Reports - Case and Research Reports, 2012/4. 7:39-48

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  2. 2
    دورية أكاديمية
    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

    المؤلفون: 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.

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. May 2016 39(3):383-390

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  3. 3
    دورية أكاديمية
    Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

    المؤلفون: 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.

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. March 2016 39(2):253-260

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  4. 4
    دورية أكاديمية
    Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

    المؤلفون: van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. March 2015 38(2):305-314

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  5. 5
    دورية أكاديمية
    Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype

    المؤلفون: 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.

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2013 36(5):787-794

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  6. 6
    دورية أكاديمية
    Molecular Defect in Combined β -galactosidase and Neuraminidase Deficiency in Man

    المؤلفون: D'Azzo, A., Hoogeveen, A., Reuser, A. J. J., Robinson, D., Galjaard, H.

    المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1982 Aug 01. 79(15), 4535-4539.

    URL الوصول: https://www.jstor.org/stable/12220

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  7. 7
    دورية أكاديمية
    Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

    المؤلفون: 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.

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. May 2012 35(3):505-511

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  8. 8
    دورية أكاديمية
    Hearing in adults with Pompe disease

    المؤلفون: van der Beek, Nadine A. M. E., Verschuure, Hans, Reuser, Arnold J. J., van der Ploeg, Ans T., van Doorn, Pieter A., Poublon, René M. L.

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. March 2012 35(2):335-341

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  9. 9
    دورية أكاديمية
    PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease

    المؤلفون: 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.

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. April 2010 33(2):133-139

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  10. 10
    دورية أكاديمية
    Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

    المؤلفون: 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.

    المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. June 2009 32(3):416-423

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