Orphanet journal of rare diseases, 1750-1172

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  1. Dried blood spot versus venous blood sampling for phenylalanine and tyrosine

    van Vliet, K., van Ginkel, W. G., van Dam, E., de Blaauw, P., Koehorst, M., Kingma, H. A., van Spronsen, F. J. & Heiner-Fokkema, M. R., 3-Apr-2020, In : Orphanet journal of rare diseases. 15, 1, 8 p., 82.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

    van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., De Laet, C., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Bierau, J., van Hasselt, P. M., Gissen, P., Goyens, P. J., McKiernan, P. J., Wilcox, G., Morris, A. A. M., Jameson, E. A., Huijbregts, S. C. J. & van Spronsen, F. J., 4-Dec-2019, In : Orphanet journal of rare diseases. 14, 1, 9 p., 285.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 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

  4. 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

  5. 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

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