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4 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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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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Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II
(Article)
Okumiya, T. Kroos, M.A. Vliet, L.V. Takeuchi, H. Ploeg, A.T. van der Reuser, A.J.J. |
2007-01-01
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