Orphanet journal of rare diseases, 1750-1172

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  1. Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

    Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. P., van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A. & Zijlmans, C. W. R., 19-Dec-2019, In : Orphanet journal of rare diseases. 14, 1, 9 p., 294.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis

    Connolly, M. P., Panda, S., Patris, J. & Hazenberg, B. P. C., 18-Sep-2019, In : Orphanet journal of rare diseases. 14, 1, 10 p., 220.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 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

  4. Gitelman syndrome

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

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. 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

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