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

pediatrician Inherited Metabolic Diseases

prof. dr. F.J. (Francjan) van Spronsen
+31 50 361 1036 (secretary Metabolic Diseases Pediatrics)
+31 50 361 4944 (secretary Patient Care Metabolic Diseases Pedicatrics)
+31 50 361 4944 (Center of Expertise for PKU and Tyrosinemia)


  1. Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: The challenge for the future guidelines

    Leuzzi, V., Chiarotti, F., Nardecchia, F., van Vliet, D. & van Spronsen, F. J., Feb-2020, In : JOURNAL OF MEDICAL GENETICS. 57, 2, p. 145-150 6 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor

    Wortmann, S. B., Van Hove, J. L. K., Derks, T. G. J., Chevalier, N., Knight, V., Koller, A., Oussuren, E., Mayr, J. A., van Spronsen, F. J., Lagler, F. B., Gaughan, S., Van Schaftingen, E. & Veiga-da-Cunha, M., 15-Apr-2020, In : Blood. 27 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 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

  4. Does the 48-hour BH4 loading test miss responsive PKU patients?

    van Wegberg, A. M. J., Evers, R. A. F., van Dam, E., de Vries, M. C., Janssen, M. C. H., Heiner-Fokkema, M. R. & van Spronsen, F. J., 2020, In : Molecular Genetics and Metabolism. 129, 3, p. 186-192 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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  1. Replication Data for: Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)

    Bruinenberg, V. M. (Creator), van Vliet, D. (Creator), Goot, van der, E. (Creator), de Vries, M. (Creator), Counotte, D. S. (Creator), Kuhn, M. (Creator), Spronsen, van, F. (Creator), Zee, van der, E. (Creator), University of Groningen, 25-Jan-2019


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  1. The role of genetic first in neonatal screening

    FrancJan J. van Spronsen (Speaker)

    Activity: Talk or presentationProfessional

  2. Phenylketonuria and its treatment. Masterclass on PKU in China.

    FrancJan J. van Spronsen (Speaker)

    Activity: Talk or presentationProfessional

  3. Tyrosinemie type 1 patiëntendag

    FrancJan J. van Spronsen (Organiser)

    Activity: Participating in or organising an eventOrganising an eventProfessional

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