prof. dr. F.J. (Francjan) van Spronsen

kinderarts Erfelijke Metabole Ziekten

prof. dr. F.J. (Francjan) van Spronsen
Contact:
050 361 4147 (secretariaat Kindergeneeskunde Metabole Ziekten)
050 361 4944 (secretariaat patientenzorg Metabole Ziekten)
050 361 4944 (secretariaat Expertise Centrum voor PKU en Tyrosinemie)
E-mail:

Research

Publications
  1. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

    Gizewska, M., MacDonald, A., Belanger-Quintana, A., Burlina, A., Cleary, M., Coskun, T., Feillet, F., Muntau, A. C., Trefz, F. K., van Spronsen, F. J. & Blau, N. Feb-2016 In : European Journal of Pediatrics. 175, 2, p. 261-272 12 p.

    Research output: Contribution to journalArticle

  2. Liver Cancer in Tyrosinemia Type 1

    van Ginkel, W. G., Pennings, J. P. & van Spronsen, F. J. 2017 HEREDITARY TYROSINEMIA: PATHOGENESIS, SCREENING AND MANAGEMENT. Tanguay, R. M. (ed.). Springer International Publishing AG, p. 101-109 9 p. (Advances in Experimental Medicine and Biology; vol. 959)

    Research output: Chapter in Book/Report/Conference proceedingChapter

  3. Dietary Considerations in Tyrosinemia Type I

    van Spronsen, F. J., van Rijn, M., Meyer, U. & Das, A. M. 2017 HEREDITARY TYROSINEMIA: PATHOGENESIS, SCREENING AND MANAGEMENT. Tanguay, R. M. (ed.). Springer International Publishing AG, p. 197-204 8 p. (Advances in Experimental Medicine and Biology; vol. 959)

    Research output: Chapter in Book/Report/Conference proceedingChapter

  4. Can untreated PKU patients escape from intellectual disability?: A systematic review

    van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Blau, N., Bulut, F. D., Casas, K., Didycz, B., Djordjevic, M., Federico, A., Feillet, F., Gizewska, M., Gramer, G., Hertecant, J. L., Hollak, C. E. M., Jørgensen, J. V., Karall, D., Landau, Y., Leuzzi, V., Mathisen, P., Moseley, K., Mungan, N. Ö., Nardecchia, F., Õunap, K., Powell, K. K., Ramachandran, R., Rutsch, F., Setoodeh, A., Stojiljkovic, M., Trefz, F. K., Usurelu, N., Wilson, C., van Karnebeek, C. D., Hanley, W. B. & van Spronsen, F. J. 29-Aug-2018 In : Orphanet journal of rare diseases. 13, 1, 6 p., 149

    Research output: Contribution to journalReview article

  5. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: From attention deficit to severe dystonia and intellectual disability

    van Spronsen, F. J., Himmelreich, N., Rufenacht, V., Shen, N., van Vliet, D., Al-Owain, M., Ramzan, K., Alkhalifi, S. M., Lunsing, R. J., Heiner-Fokkema, R. M., Rassi, A., Gemperle-Britschgi, C., Hoffmann, G. F., Blau, N. & Thony, B. Apr-2018 In : JOURNAL OF MEDICAL GENETICS. 55, 4, p. 249-253 5 p.

    Research output: Contribution to journalArticle

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