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. Anthropomorphic measurements and nutritional biomarkers after 5 years of BH4 treatment in phenylketonuria patients

    Evers, R. A. F., van Wegberg, A. M. J., van Dam, E., de Vries, M. C., Janssen, M. C. H. & van Spronsen, F. J., Aug-2018, In : Molecular Genetics and Metabolism. 124, 4, p. 238-242 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis

    Stelten, B. M. L., Bonnot, O., Huidekoper, H. H., van Spronsen, F. J., van Hasselt, P. M., Kluijtmans, L. A. J., Wevers, R. A. & Verrips, A., Jul-2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 641-646 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

    de Rooy, R. L. P., Halbertsma, F. J., Struijs, E. A., van Spronsen, F. J., Lunsing, R. J., Schippers, H. M., van Hasselt, P. M., Plecko, B., Wohlrab, G., Whalen, S., Benoist, J. F., Valence, S., Mills, P. B. & Bok, L. A., Jul-2018, In : European Journal of Paediatric Neurology. 22, 4, p. 662-666 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia

    Burlina, A., Tims, S., van Spronsen, F., Sperl, W., Burlina, A. P., Kuhn, M., Knol, J., Rakhshandehroo, M., Coskun, T., Singh, R. H. & MacDonald, A., 2018, In : Expert Opinion on Orphan Drugs. 6, 11, p. 683-692 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients

    van Ginkel, W. G., Jahja, R., Huijbregts, S. C. J. & van Spronsen, F. J., 2017, Hereditary tyrosinemia: pathogenesis, screening and management. Tanguay, RM. (ed.). Springer International Publishing AG, p. 111-122 12 p. (Advances in Experimental Medicine and Biology; vol. 959).

    Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

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