Orphanet journal of rare diseases, 1750-1172

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  1. The natural history of classic galactosemia: lessons from the GalNet registry

    Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P. & Berry, G. T., 27-Apr-2019, In : Orphanet journal of rare diseases. 14, 1, 11 p., 86.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Web-based personalised information and support for patients with a neuroendocrine tumour: randomised controlled trial

    de Hosson, L. D., Bouma, G., Stelwagen, J., van Essen, H., de Bock, G. H., de Groot, D. J. A., de Vries, E. G. E. & Walenkamp, A. M. E., 28-Feb-2019, In : Orphanet journal of rare diseases. 14, 8 p., 60.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU

    Daly, A., Evans, S., Chahal, S., Santra, S., Pinto, A., Jackson, R., Gingell, C., Rocha, J., Van Spronsen, F. J. & MacDonald, A., 15-Feb-2019, In : Orphanet journal of rare diseases. 14, 12 p., 44.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

    FORGE Canada Consortium, 27-Apr-2013, In : Orphanet journal of rare diseases. 8, 9 p., 63.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Meier-Gorlin syndrome

    de Munnik, S. A., Hoefsloot, E. H., Roukema, J., Schoots, J., Knoers, N. V. A. M., Brunner, H. G., Jackson, A. P. & Bongers, E. M. H. F., 17-Sep-2015, In : Orphanet journal of rare diseases. 10, 7 p., 114.

    Research output: Contribution to journalReview articleAcademicpeer-review

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