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

pediatrician Inherited Metabolic Diseases

prof. dr. F.J. (Francjan) van Spronsen
Telephone:
+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)
E-mail:
f.j.van.spronsen umcg.nl

Research

Publications
  1. Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

    van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Casas, K., Didycz, B., Djordjevic, M., Hertecant, J. L., Leuzzi, V., Mathisen, P., Nardecchia, F., Powell, K. K., Rutsch, F., Stojiljkovic, M., Trefz, F. K., Usurelu, N., Wilson, C., van Karnebeek, C. D., Hanley, W. B. & van Spronsen, F. J., Nov-2019, In : Nutrients. 11, 11, 10 p., 2572.

    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. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

    van Rijt, W. J., Jager, E. A., Allersma, D. P., Aktuğlu Zeybek, A. Ç., Bhattacharya, K., Debray, F-G., Ellaway, C. J., Gautschi, M., Geraghty, M. T., Gil-Ortega, D., Larson, A. A., Moore, F., Morava, E., Morris, A. A., Oishi, K., Schiff, M., Scholl-Bürgi, S., Tchan, M. C., Vockley, J., Witters, P., Wortmann, S. B., van Spronsen, F., Van Hove, J. L. K. & Derks, T. G. J., 6-Jan-2020, In : Genetics in Medicine. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients

    van Ginkel, W. G., van Reemst, H. E., Kienstra, N. S., Daly, A., Rodenburg, I. L., MacDonald, A., Burgerhof, J. G. M., de Blaauw, P., van de Krogt, J., Santra, S., Heiner-Fokkema, M. R. & van Spronsen, F. J., Nov-2019, In : Nutrients. 11, 11, 11 p., 2816.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1

    van Ginkel, W. G., Rodenburg, I. L., Harding, C. O., Hollak, C. E. M., Heiner-Fokkema, M. R. & van Spronsen, F. J., Oct-2019, In : Paediatric drugs. 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

View all (205) »

Datasets
  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

    Dataset

View all (1) »

Activities
  1. The role of genetic first in neonatal screening

    FrancJan J. van Spronsen (Speaker)
    17-Apr-2018

    Activity: Talk or presentationProfessional

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

    FrancJan J. van Spronsen (Speaker)
    27-Oct-2018

    Activity: Talk or presentationProfessional

  3. Tyrosinemie type 1 patiëntendag

    FrancJan J. van Spronsen (Organiser)
    10-Mar-2018

    Activity: Participating in or organising an eventOrganising an eventProfessional

View all (32) »

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