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Floris Hofstede

Floris Hofstede

drs.

 https://orcid.org/0000-0002-5140-9119
    1995 …2026

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    • Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

      VanSickle, E. A., Sarasua, S. M., Lowe, T., Farrell, C. L., Boccuto, L., Schwartz, C., Pegg, A. E., Peron, A., Faundes, V., Ganapathi, M., Chung, W. K., Ziegler, A., Hofstede, F., Prouteau, C., Steindl, K., Olson, C., Devinsky, O., Mastracci, T. L., Casero, R. A. & Stewart, T. M. & 7 others, Gilmour, S., Koerner, T., Kutler, M. J., Rajasekaran, S., Michael, J., Bachmann, A. S. & Bupp, C. P., May 2026, In: American Journal of Medical Genetics, Part A. 200, 5, p. 993-1003 11 p.

      Research output: Contribution to journal › Article › Academic › peer-review

      Open Access
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    • Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

      Kalm, T., Schob, C., Völler, H., Gardeitchik, T., Gilissen, C., Pfundt, R., Klöckner, C., Platzer, K., Klabunde-Cherwon, A., Ries, M., Syrbe, S., Beccaria, F., Madia, F., Scala, M., Zara, F., Hofstede, F., Simon, M. E. H., van Jaarsveld, R. H., Oegema, R. & van Gassen, K. L. I. & 40 others, Holwerda, S. J. B., Barakat, T. S., Bouman, A., van Slegtenhorst, M., Álvarez, S., Fernández-Jaén, A., Porta, J., Accogli, A., Mancardi, M. M., Striano, P., Iacomino, M., Chae, J.-H., Jang, S., Kim, S. Y., Chitayat, D., Mercimek-Andrews, S., Depienne, C., Kampmeier, A., Kuechler, A., Surowy, H., Bertini, E. S., Radio, F. C., Mancini, C., Pizzi, S., Tartaglia, M., Gauthier, L., Genevieve, D., Tharreau, M., Azoulay, N., Zaks-Hoffer, G., Gilad, N. K., Orenstein, N., Bernard, G., Thiffault, I., Denecke, J., Herget, T., Kortüm, F., Kubisch, C., Bähring, R. & Kindler, S., 6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 1206-1221 16 p.

      Research output: Contribution to journal › Article › Academic › peer-review

      Open Access
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      4 Downloads (Pure)

    • Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports

      Ferreira, E. A., Hofstede, F. C., Haijes-Siepel, H. A., Lichtenbelt, K. D., Pistorius, L., de Sain-van der Velden, M. G. M., Nikkels, P. G. J., Lequin, M. H., de Vries, L. S., van der Crabben, S. N. & van Hasselt, P. M., Jan 2024, In: Genetics in Medicine Open. 2, 101853.

      Research output: Contribution to journal › Article › Academic › peer-review

      Open Access
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      46 Downloads (Pure)

    • Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

      van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., Santra, S., De Laet, C., Goyens, P. J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., van Hasselt, P. M., Wilcox, G., Morris, A. A. M. & Jameson, E. A. & 15 others, de la Parra, A., Arias, C., Garcia, M. I., Cornejo, V., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., Hofstede, F. C., de Vries, M. C., Janssen, M. C. H., van der Ploeg, A. T., Langendonk, J. G., Huijbregts, S. C. J. & van Spronsen, F. J., Sept 2022, In: Journal of Inherited Metabolic Disease. 45, 5, p. 952-962 11 p.

      Research output: Contribution to journal › Article › Academic › peer-review

      Open Access
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      8 Downloads (Pure)

    • Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome

      VanSickle, E. A., Michael, J., Bachmann, A. S., Rajasekaran, S., Prokop, J. W., Kuzniecky, R., Hofstede, F. C., Steindl, K., Rauch, A., Lipson, M. H. & Bupp, C. P., Nov 2021, In: American Journal of Medical Genetics. Part A. 185, 11, p. 3485-3493 9 p.

      Research output: Contribution to journal › Article › Academic › peer-review

      Open Access
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      6 Downloads (Pure)
    View all 29 research outputs
    • 12 Participation in workshop, seminar, course
    • 11 Participation in conference
    • 1 Invited talk
    • 1 Oral presentation
    View all 25 activities