dr. T.G.J. (Terry) Derks

consultant pediatric metabolic diseases

Research

  1. 2020
  2. Wortmann, S. B., Van Hove, J. L. K., Derks, T. G. J., Chevalier, N., Knight, V., Koller, A., Oussuren, E., Mayr, J. A., van Spronsen, F. J., Lagler, F. B., Gaughan, S., Van Schaftingen, E., & Veiga-da-Cunha, M. (2020). Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor. Blood, 136(9), 1033-1043. https://doi.org/10.1182/blood.2019004465
  3. Peeks, F., Boonstra, W. F., de Baere, L., Carøe, C., Casswall, T., Cohen, D., Cowan, K., Ferrecchia, I., Ferriani, A., Gimbert, C., Landgren, M., Maldonado, N. L., McMillan, J., Nemeth, A., Seidita, N., Stachelhaus-Theimer, U., Weinstein, D. A., & Derks, T. (2020). Research priorities for liver glycogen storage disease: An international priority setting partnership with the James Lind Alliance. Journal of Inherited Metabolic Disease, 43(2), 279-289. https://doi.org/10.1002/jimd.12178
  4. Rossi, A., Hoogeveen, I. J., Bastek, V. B., de Boer, F., Montanari, C., Meyer, U., Maiorana, A., Bordugo, A., Dianin, A., Campana, C., Rigoldi, M., Kishnani, P. S., Pendyal, S., Strisciuglio, P., Gasperini, S., Parenti, G., Parini, R., Paci, S., Melis, D., & Derks, T. G. J. (2020). Dietary lipids in glycogen storage disease type III: a systematic literature study, case studies and future recommendations. Journal of Inherited Metabolic Disease, (4), 770-777. https://doi.org/10.1002/jimd.12224
  5. van Rijt, W. J., Jager, E. A., Allersma, D. P., Aktuğlu Zeybek, A. Ç., Bhattacharya, K., Debray, F-G., Ellaway, C. J., Gautschi, M., Geraghty, M. T., Gil-Ortega, D., Larson, A. A., Moore, F., Morava, E., Morris, A. A., Oishi, K., Schiff, M., Scholl-Bürgi, S., Tchan, M. C., Vockley, J., ... Derks, T. G. J. (2020). Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genetics in Medicine, 22(5), 908-916. https://doi.org/10.1038/s41436-019-0739-z
  6. 2019
  7. Welling, L., Meester-Delver, A., Derks, T. G., Janssen, M. C. H., Hollak, C. E. M., de Vries, M., & Bosch, A. M. (2019). The need for additional care in patients with classical galactosaemia. Disability and Rehabilitation, 41(22), 2663-2668. https://doi.org/10.1080/09638288.2018.1475514
  8. van Rijt, W. J., Ferdinandusse, S., Giannopoulos, P., Ruiter, J. P. N., de Boer, L., Bosch, A. M., Huidekoper, H. H., Rubio-Gozalbo, M. E., Visser, G., Williams, M., Wanders, R. J. A., & Derks, T. G. J. (2019). Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: a retrospective and laboratory cohort study. Journal of Inherited Metabolic Disease, 42(5), 878-889. https://doi.org/10.1002/jimd.12147
  9. Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Rubio Gozalbo, E., van der Velden, M. G. M. D. S., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., ... Visser, G. (2019). Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes. Journal of Inherited Metabolic Disease, 42(3), 414-423. https://doi.org/10.1002/jimd.12075
  10. Kuiper, A., Grünewald, S., Murphy, E., Coenen, M. A., Eggink, H., Zutt, R., Rubio-Gozalbo, M. E., Bosch, A. M., Williams, M., Derks, T. G. J., Lachmann, R. H. L., Brouwers, M. C. G. J., Janssen, M. C. H., Tijssen, M. A., & de Koning, T. J. (2019). Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia. Journal of Inherited Metabolic Disease, 42(3), 451-458. https://doi.org/10.1002/jimd.12054
  11. Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., ... Berry, G. T. (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), [86]. https://doi.org/10.1186/s13023-019-1047-z
  12. Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., Williams, M., Gozalbo, E. R., Bosch, A. M., van den Hurk, D. T., de Sain-van der Velden, M. G. M., Waterham, H. R., Wijburg, F. A., & Visser, G. (2019). Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease, 42(1), 159-168. https://doi.org/10.1002/jimd.12037
  13. 2018
  14. Friederich, M. W., Timal, S., Powell, C. A., Dallabona, C., Kurolap, A., Palacios-Zambrano, S., Bratkovic, D., Derks, T. G. J., Bick, D., Bouman, K., Chatfield, K. C., Damouny-Naoum, N., Dishop, M. K., Falik-Zaccai, T. C., Fares, F., Fedida, A., Ferrero, I., Gallagher, R. C., Garesse, R., ... 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
  15. 2017
  16. Wortmann, S. B., Timal, S., Venselaar, H., Wintjes, L. T., Kopajtich, R., Feichtinger, R. G., Onnekink, C., Muhlmeister, M., Brandt, U., Smeitink, J. A., Veltman, J. A., Sperl, W., Lefeber, D., Pruijn, G., Stojanovic, V., Freisinger, P., von Spronsen, F., Derks, T. G. J., Veenstra-Knol, H. E., ... 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
  17. Grünert, S. C., Schmitt, R. N., Schlatter, S. M., Gemperle-Britschgi, C., Balcı, M. C., Berg, V., Çoker, M., Das, A. M., Demirkol, M., Derks, T. G. J., Gökçay, G., Uçar, S. K., Konstantopoulou, V., Christoph Korenke, G., Lotz-Havla, A. S., Schlune, A., Staufner, C., Tran, C., Visser, G., ... Sass, J. O. (2017). Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Molecular Genetics and Metabolism, 122(1-2), 67-75. https://doi.org/10.1016/j.ymgme.2017.06.012
  18. van Dam, E., Daly, A., Venema-Liefaard, G., van Rijn, M., Derks, T. G. J., McKiernan, P. J., Heiner-Fokkema, R., MacDonald, A., & van Spronsen, F. J. (2017). What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients? In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (pp. 49-57). (Journal of Inherited Metabolic Disorders; Vol. 36). Springer. https://doi.org/10.1007/8904_2016_37
  19. 2016
  20. Sentner, C. P., Hoogeveen, I. J., Weinstein, D. A., Santer, R., Murphy, E., McKiernan, P. J., Steuerwald, U., Beauchamp, N. J., Taybert, J., Laforet, P., Petit, F. M., Hubert, A., Labrune, P., Smit, G. P. A., & Derks, T. G. J. (2016). Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. Journal of Inherited Metabolic Disease, 39(5), 697-704. https://doi.org/10.1007/s10545-016-9932-2
  21. van Capelle, C. I., van der Meijden, J. C., van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., Kroos, M. A., Derks, T. G. J., Rubio-Gozalbo, M. E., Willemsen, M. A., Lachmann, R. H., Mengel, E., Michelakakis, H., de Jongste, J. C., Reuser, A. J. J., & van der Ploeg, A. T. (2016). Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet journal of rare diseases, 11(1), [65]. https://doi.org/10.1186/s13023-016-0442-y
  22. Mazzola, P. N., Nalin, T., Castro, K., van Rijn, M., Derks, T. G. J., Perry, I. D. S., Mainieri, A. S., & Schwartz, I. V. D. (2016). Analysis of body composition and nutritional status in Brazilian phenylketonuria patients. Molecular genetics and metabolism reports, 6, 16-20. https://doi.org/10.1016/j.ymgmr.2015.12.003
  23. Hoogeveen, I. J., van der Ende, R. M., van Spronsen, F. J., de Boer, F., Heiner-Fokkema, R., & Derks, T. G. J. (2016). Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (Vol. 28, pp. 41-47). (Journal of Inherited Metabolic Disorders; Vol. 28). Springer. https://doi.org/10.1007/8904_2015_511
  24. 2015
  25. Schwahn, B. C., Van Spronsen, F. J., Belaidi, A. A., Bowhay, S., Christodoulou, J., Derks, T. G., Hennermann, J. B., Jameson, E., Koenig, K., McGregor, T. L., Font-Montgomery, E., Santamaria-Araujo, J. A., Santra, S., Vaidya, M., Vierzig, A., Wassmer, E., Weis, I., Wong, F. Y., Veldman, A., & Schwarz, G. (2015). Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. The Lancet, 386(10007), 1955-1963. https://doi.org/10.1016/S0140-6736(15)00124-5
  26. Brown, L. M., Corrado, M. M., van der Ende, R. M., Derks, T. G. J., Chen, M. A., Siegel, S., Hoyt, K., Correia, C. E., Lumpkin, C., Flanagan, T. B., Carreras, C. T., & Weinstein, D. A. (2015). Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. Journal of Inherited Metabolic Disease, 38(3), 489-493. https://doi.org/10.1007/s10545-014-9744-1
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