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disease patient glucosidase enzyme pompe disease activity pompe glycogen lysosomal muscle storage mutation enzyme replacement therapy acid α- glucosidase protein study analysis cgk ii a-glucosidase table reuser mouse therapy van der ploeg sequence tissue assay fraction acid a-glucosidase sample method substrate expression gsdii antibody treatment figure genetic number heart effect screening blood erasmus mc fi broblasts precursor concentration production intron alglucosidase alfa result replacement rabbit acarbose model ficiency diagnosis lysosomal storage disorders genet structure glcnac glucosidase activity medium glycogenosis type ii lv-sf-gaa knockout erasmu blood spots gland transgene acid a-glucosidase activity adult rhaglu n-glycan level function alglucosidase change cho cells lv-sf-gfp
10 Most Recent Publications
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Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots
(Article)
Shigeto, S. Katafuchi, T. Okumiya, T. Okada, Y. Nakamura, K. Endo, F. Okuyama, T. Takeuchi, H. Kroos, M.A. Verheijen, F.W. Reuser, A.J.J. |
2011-05-01
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High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa
(Article)
Vries, J.M. de Beek, N.A.M.E. van der Kroos, M.A. Özkan, L. Doorn, P.A. van Richards, S.M. |
2010-12-01
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Design and validation of a metabolic disorder resequencing microarray (BRUM1)
(Article)
Bruce, C.K. Smith, M. Rolfs, A. Hendriksz, C. Kelly, D.A. Barrett, T. MacDonald, F. Maher, E.R. Gissen, P. Rahman, F. Liu, Z.F. McMullan, D.J. Ball, S.G. Hartley, J. Kroos, M.A. Heptinstall, L. Reuser, A.J.J. |
2010-07-01
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Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype
(Article)
Til, N.P. van Stok, M. Scholte, B.J. Lambrecht, B.N.M. Duncker, D.J.G.M. Ploeg, A.T. van der Reuser, A.J.J. Verstegen, M.M.A. Wagemaker, G. Aerts Kaya, F.S.F. Waard, M.C. de Farahbakhshian, E. Visser, T.P. Kroos, M.A. Jacobs, E.H. Willart, M.A. Wegen, P. van der |
2010-07-01
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Enzymatic and molecular strategies to diagnose Pompe disease
(Article)
Reuser, A.J.J. Verheijen, F.W. Kroos, M.A. Okumiya, T. Diggelen, O.P. van Ploeg, A.T. van der Halley, D. |
2010-01-01
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High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population
(Article)
Kumamoto, S. Katafuchi, T. Nakamura, K. Endo, F. Oda, E. Okuyama, T. Kroos, M.A. Reuser, A.J.J. Okumiya, T. |
2009-07-01
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Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease
(Article)
Sugawara, K. Saito, S. Sekijima, M. Ohno, K. Tajima, Y. Kroos, M.A. Reuser, A.J.J. Sakuraba, H. |
2009-06-01
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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates
(Article)
Diggelen, O.P. van Oemardien, L.F. Beek, N.A.M.E. van der Kroos, M.A. Wind, H.K. Voznyi, Y.V. Burke, D. Jackson, M. Winchester, B. Reuser, A.J.J. |
2009-04-23
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Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities
(Article)
Beek, N.A.M.E. van der Soliman, O.I.I. Capelle, C.I. van Geleijnse, M.L. Vletter, W.B. Kroos, M.A. Reuser, A.J.J. Frohn-Mulder, I.M.E. Doorn, P.A. van Ploeg, A.T. van der |
2008-12-15
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p.[G576S; E689K]: Pathogenic combination or polymorphism in Pompe disease?
(Article)
Kroos, M.A. Mullaart, R.A. Reuser, A.J.J. Vliet, L. van Pomponio, R.J. Amartino, H. Kolodny, E.H. Pastores, G.M. Wevers, R.A. Ploeg, A.T. van der Halley, D. |
2008-08-01
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