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. Hillert, A., Anikster, Y., Belanger-Quintana, A., Burlina, A., Burton, B. K., Carducci, C., ... Blau, N. (2020). The Genetic Landscape and Epidemiology of Phenylketonuria. American Journal of Human Genetics, 107(2), 234-250. https://doi.org/10.1016/j.ajhg.2020.06.006
  3. Wortmann, S. B., Van Hove, J. L. K., Derks, T. G. J., Chevalier, N., Knight, V., Koller, A., ... Veiga-da-Cunha, M. (2020). Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor. Blood. https://doi.org/10.1182/blood.2019004465
  4. Lubout, C. M. A., Arrieta Blanco, F., Bartosiewicz, K., Feillet, F., Gizewska, M., Hollak, C., ... Bosch, A. M. (2020). Bone mineral density is within normal range in most adult phenylketonuria patients. Journal of Inherited Metabolic Disease, 43(2), 251-258. https://doi.org/10.1002/jimd.12177
  5. 2019
  6. 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
  7. 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
  8. 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
  9. 2018
  10. 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
  11. 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
  12. 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.
  13. 2017
  14. 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
  15. 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
  16. 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
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