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

pediatrician Inherited Metabolic Diseases

prof. dr. F.J. (Francjan) van Spronsen
Telephone:
+31 50 361 4147 (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:

Research

Publications
  1. Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach

    Evers, R. A. F., van Vliet, D. & van Spronsen, F. J., 1-Aug-2019, In : Journal of Inherited Metabolic Disease.

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria

    MacDonald, A., Singh, R. H., Rocha, J. C. & van Spronsen, F. J., Jun-2019, In : Nutrition research reviews. 32, 1, p. 70-78 9 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  3. Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria

    Pinto, A., Almeida, M. F., MacDonald, A., Ramos, P. C., Rocha, S., Guimas, A., Ribeiro, R., Martins, E., Bandeira, A., Jackson, R., van Spronsen, F., Payne, A. & Rocha, J. C., May-2019, In : Nutrients. 11, 5, 10 p., 995.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    Muntau, A. C., Adams, D. J., Belanger-Quintana, A., Bushueva, T. V., Cerone, R., Chien, Y-H., Chiesa, A., Coskun, T., de las Heras, J., Feillet, F., Katz, R., Lagler, F., Piazzon, F., Rohr, F., van Spronsen, F. J., Vargas, P., Wilcox, G. & Bhattacharya, K., May-2019, In : Molecular Genetics and Metabolism. 127, 1, p. 1-11 11 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. The neurological and psychological phenotype of adult patients with early-treated phenylketonuria: A systematic review

    Burlina, A. P., Lachmann, R. H., Manara, R., Cazzorla, C., Celato, A., van Spronsen, F. J. & Burlina, A., Mar-2019, In : Journal of Inherited Metabolic Disease. 42, 2, p. 209-219 11 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

View all (197) »

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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