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Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening
Bouwman, M. G., de Ru, M. H., Linthorst, G. E., Hollak, C. E. M., Wijburg, F. A. & van Zwieten, M. C. B., 2013, In: Molecular Genetics and Metabolism. 109, 2, p. 201-207Research output: Contribution to journal › Article › Academic › peer-review
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Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain
Rombach, S. M., Smid, B. E., Bouwman, M. G., Linthorst, G. E., Dijkgraaf, M. G. W. & Hollak, C. E. M., 2013, In: Orphanet Journal of Rare Diseases. 8, 1, p. 47Research output: Contribution to journal › Article › Academic › peer-review
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Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening
de Ru, M. H., Bouwman, M. G., Wijburg, F. A. & van Zwieten, M. C. B., 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 501-507Research output: Contribution to journal › Article › Academic › peer-review
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