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

pediatrician Inherited Metabolic Diseases

prof. dr. F.J. (Francjan) van Spronsen
Contact:
+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. Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress

    van Rijt, W. J., van der Ende, R. M., Volker-Touw, C. M. L., van Spronsen, F., Derks, T. G. J. & Heiner-Fokkema, M. R., 28-Jun-2019, In : Molecular Genetics and Metabolism. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. 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., van Vliet, D., van der Goot, E., Counotte, D. S., Kuhn, M., van Spronsen, F. J. & van der Zee, E. A., 15-Mar-2019, In : PLoS ONE. 14, 3, 20 p., 0213391.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency In The Netherlands

    Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Rubio-Gozalbo, M. E., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., 23-Apr-2019, In : Journal of Inherited Metabolic Disease. 33 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. De geschiedenis van de hielprik

    van Spronsen, F. J. & Dekkers, E., 28-Mar-2018, De hielprik: Erfelijke metabole ziekten aan het licht via een druppeltje bloed. Houtkooper, R., Daniels, E., Visser, G., van Everdingen, J. & Buiter, R. (eds.). Stichting Biowetenschappen en Maatschappij, Vol. 37. p. 5-16 12 p. (Cahiers Biowetenschappen en Maatschappij).

    Research output: Chapter in Book/Report/Conference proceedingChapterPopular

  5. Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU

    Daly, A., Evans, S., Chahal, S., Santra, S., Pinto, A., Jackson, R., Gingell, C., Rocha, J., Van Spronsen, F. J. & MacDonald, A., 15-Feb-2019, In : Orphanet journal of rare diseases. 14, 12 p., 44.

    Research output: Contribution to journalArticleAcademicpeer-review

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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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