R.A.F. (Roeland) Evers, BSc

MD/PhD-student pediatrics

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E-mail:
r.a.f.evers umcg.nl

Research

Publications
  1. The Genetic Landscape and Epidemiology of Phenylketonuria

    Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., Chiesa, A. E., Christodoulou, J., Dordevic, M., Desviat, L. R., Eliyahu, A., Evers, R. A. F., Fajkusova, L., Feillet, F., Bonfim-Freitas, P. E., Gizewska, M., Gundorova, P., Karall, D., Kneller, K., Kutsev, S., Leuzzi, V., Levy, H. L., Lichter-Konecki, U., Muntau, A. C., Namour, F., Oltarzewski, M., Paras, A., Perez, B., Polak, E., Polyakov, A., Porta, F., Rohrbach, M., Scholl-Burgi, S., Specola, N., Stojiljkovic, M., Shen, N., Santana-da Silva, L. C., Skouma, A., van Spronsen, F., Stoppioni, V., Thony, B., Trefz, F. K., Vockley, J., Yu, Y., Zschocke, J., Hoffmann, G. F., Garbade, S. F. & Blau, N., 6-Aug-2020, In : American Journal of Human Genetics. 107, 2, p. 234-250 17 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Does the 48-hour BH4 loading test miss responsive PKU patients?

    van Wegberg, A. M. J., Evers, R. A. F., van Dam, E., de Vries, M. C., Janssen, M. C. H., Heiner-Fokkema, M. R. & van Spronsen, F. J., Mar-2020, In : Molecular Genetics and Metabolism. 129, 3, p. 186-192 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. The first European guidelines on phenylketonuria: its usefulness and implications for BH4 responsiveness testing

    Evers, R. A. F., van Wegberg, A. M. J., Anjema, K., Lubout, C. M. A., van Dam, E., van Vliet, D., Blau, N. & van Spronsen, F. J., 10-Sep-2019, In : Journal of Inherited Metabolic Disease. 43, 2, p. 244-250 20 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach

    Evers, R. A. F., van Vliet, D. & van Spronsen, F. J., Mar-2020, In : Journal of Inherited Metabolic Disease. 43, 2, p. 189-199 11 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. Anthropomorphic measurements and nutritional biomarkers after 5 years of BH4 treatment in phenylketonuria patients

    Evers, R. A. F., van Wegberg, A. M. J., van Dam, E., de Vries, M. C., Janssen, M. C. H. & van Spronsen, F. J., Aug-2018, In : Molecular Genetics and Metabolism. 124, 4, p. 238-242 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

View all (5) »

ID: 66834483