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

  1. 2020
  2. 2019
  3. van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Casas, K., Didycz, B., ... van Spronsen, F. J. (2019). Untreated PKU Patients without Intellectual Disability: What Do They Teach Us? Nutrients, 11(11), [2572]. https://doi.org/10.3390/nu11112572
  4. Muntau, A. C., Adams, D. J., Belanger-Quintana, A., Bushueva, T. V., Cerone, R., Chien, Y-H., ... Bhattacharya, K. (2019). International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria. Molecular Genetics and Metabolism, 127(1), 1-11. https://doi.org/10.1016/j.ymgme.2019.04.004
  5. Pinto, A., Almeida, M. F., MacDonald, A., Ramos, P. C., Rocha, S., Guimas, A., ... Rocha, J. C. (2019). Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria. Nutrients, 11(5), [995]. https://doi.org/10.3390/nu11050995
  6. 2018
  7. Friederich, M. W., Timal, S., Powell, C. A., Dallabona, C., Kurolap, A., Palacios-Zambrano, S., ... Donnini, C. (2018). Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nature Communications, 9(1), [4065]. https://doi.org/10.1038/s41467-018-06250-w
  8. Stelten, B. M. L., Bonnot, O., Huidekoper, H. H., van Spronsen, F. J., van Hasselt, P. M., Kluijtmans, L. A. J., ... Verrips, A. (2018). Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. Journal of Inherited Metabolic Disease, 41(4), 641-646. https://doi.org/10.1007/s10545-017-0086-7
  9. van Spronsen, F. J., & Dekkers, E. (2018). De geschiedenis van de hielprik. In R. Houtkooper, E. Daniels, G. Visser, J. van Everdingen, & R. Buiter (Eds.), De hielprik: Erfelijke metabole ziekten aan het licht via een druppeltje bloed (Vol. 37, pp. 5-16). (Cahiers Biowetenschappen en Maatschappij). Stichting Biowetenschappen en Maatschappij.
  10. 2017
  11. Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schluter, A., ... Waterham, H. R. (2017). Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. American Journal of Human Genetics, 101(6), 965-976. https://doi.org/10.1016/j.ajhg.2017.11.007
  12. Wortmann, S. B., Timal, S., Venselaar, H., Wintjes, L. T., Kopajtich, R., Feichtinger, R. G., ... Rodenburg, R. J. (2017). Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Human Mutation, 38(12), 1786-1795. https://doi.org/10.1002/humu.23340
  13. Boot, E., Hollak, C. E. M., Huijbregts, S. C. J., Jahja, R., van Vliet, D., Nederveen, A. J., ... Booij, J. (2017). Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria. Psychological Medicine, 47(16), 2854-2865. https://doi.org/10.1017/S0033291717001398
  14. Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, H. J. H., Bisschop, P. H., Vaz, F. M., ... Bosch, A. M. (2017). Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria. Annals of nutrition and metabolism, 70(2), 111-121. https://doi.org/10.1159/000465529
  15. van Spronsen, F. J., van Rijn, M., Meyer, U., & Das, A. M. (2017). Dietary Considerations in Tyrosinemia Type I. In RM. Tanguay (Ed.), HEREDITARY TYROSINEMIA: PATHOGENESIS, SCREENING AND MANAGEMENT (pp. 197-204). (Advances in Experimental Medicine and Biology; Vol. 959). Springer International Publishing AG. https://doi.org/10.1007/978-3-319-55780-9_18
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