Orphanet journal of rare diseases, 1750-1172

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  1. Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines

    Martin, K., Geuens, S., Asche, J. K., Bodan, R., Browne, F., Downe, A., Garcia, N. G., Jaega, G., Kennedy, B., Mauritz, P. J., Perez, F., Soon, K., Zmazek, V. & Mayre-Chilton, K. M., 11-Jun-2019, In : Orphanet journal of rare diseases. 14, 21 p., 133.

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. Gitelman syndrome

    Knoers, N. V. A. M. & Levtchenko, E. N., 30-Jul-2008, In : Orphanet journal of rare diseases. 3, p. 22

    Research output: Contribution to journalReview articleAcademicpeer-review

  3. 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

  4. 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

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