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

  1. 2019
  2. 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
  3. 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
  4. 2018
  5. 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
  6. 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
  7. 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.
  8. 2017
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. van Ginkel, W. G., Pennings, J. P., & van Spronsen, F. J. (2017). Liver Cancer in Tyrosinemia Type 1. In RM. Tanguay (Ed.), HEREDITARY TYROSINEMIA: PATHOGENESIS, SCREENING AND MANAGEMENT (pp. 101-109). (Advances in Experimental Medicine and Biology; Vol. 959). Springer International Publishing AG. https://doi.org/10.1007/978-3-319-55780-9_9
  15. van Ginkel, W. G., Jahja, R., Huijbregts, S. C. J., & van Spronsen, F. J. (2017). Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients. In RM. Tanguay (Ed.), Hereditary tyrosinemia: pathogenesis, screening and management (pp. 111-122). (Advances in Experimental Medicine and Biology; Vol. 959). Springer International Publishing AG. https://doi.org/10.1007/978-3-319-55780-9_10
  16. 2016
  17. Wiltink, R. C., Kruijshaar, M. E., van Minkelen, R., Onkenhout, W., Verheijen, F. W., Kemper, E. A., ... Williams, M. (2016). Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. European Journal of Human Genetics, 24(10), 1424-1429. https://doi.org/10.1038/ejhg.2016.65
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