prof. dr. G.P.A. (G.Peter A.) Smit

Professor

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E-mail:
g.p.a.smit umcg.nl

Research

  1. 2017
  2. 2016
  3. 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
  4. 2015
  5. Brands, M. M. G., Gungor, D., van den Hout, J. M. P., Karstens, F. P. J., Oussoren, E., Plug, I., Boelens, J. J., van Hasselt, P. M., Hollak, C. E. M., Mulder, M. F., Gozalbo, E. R., Smeitink, J. A., Smit, G. P. A., Wijburg, F. A., Meutgeert, H., & van der Ploeg, A. T. (2015). Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey. Journal of Inherited Metabolic Disease, 38(2), 323-331. https://doi.org/10.1007/s10545-014-9737-0
  6. 2014
  7. Clar, J., Gri, B., Calderaro, J., Birling, M-C., Herault, Y., Smit, G. P. A., Mithieux, G., & Rajas, F. (2014). Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy. Kidney International, 86(4), 747-756. https://doi.org/10.1038/ki.2014.102
  8. 2013
  9. Sollie, A., Sijmons, R. H., Lindhout, D., van der Ploeg, A. T., Gozalbo, M. E. R., Smit, G. P. A., Verheijen, F., Waterham, H. R., van Weely, S., Wijburg, F. A., Wijburg, R., & Visser, G. (2013). A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing. Human Mutation, 34(7), 967-973. https://doi.org/10.1002/humu.22316
  10. Calderaro, J., Labrune, P., Morcrette, G., Rebouissou, S., Franco, D., Prevot, S., Quaglia, A., Bedossa, P., Libbrecht, L., Terracciano, L., Smit, G. P. A., Bioulac-Sage, P., & Zucman-Rossi, J. (2013). Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. Journal of Hepatology, 58(2), 350-357.
  11. 2012
  12. Visser, G., de Jager, W., Verhagen, L. P., Smit, G. P. A., Wijburg, F. A., Prakken, B. J., Coffer, P. J., & Buitenhuis, M. (2012). Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients. Journal of Inherited Metabolic Disease, 35(2), 287-300. https://doi.org/10.1007/s10545-011-9379-4
  13. 2009
  14. 2008
  15. Bernier, A. V., Sentner, C. P., Correia, C. E., Theriaque, D. W., Shuster, J. J., Smit, G. P. A., & Weinstein, D. A. (2008). Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control. Journal of Inherited Metabolic Disease, 31(6), 729-732. https://doi.org/10.1007/s10545-008-0919-5
  16. Correia, C. E., Bhattacharya, K., Lee, P. J., Shuster, J. J., Theriaque, D. W., Shankar, M. N., Smit, G. P. A., & Weinstein, D. A. (2008). Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. American Journal of Clinical Nutrition, 88(5), 1272-1276. https://doi.org/10.3945/ajcn.2008.26352
  17. Martens, D. H. J., Rake, J. P., Schwarz, M., Ullrich, K., Weinstein, D. A., Merkel, M., Sauer, P. J. J., & Smit, G. P. A. (2008). Pregnancies in glycogen storage disease type Ia. American Journal of Obstetrics and Gynecology, 198(6), [ARTN 646.e1]. https://doi.org/10.1016/j.ajog.2007.11.050
  18. Zonderland, H. M., Tuut, M. K., den Heeten, G. J., Asperen, C. J., de Bock, G. H., Rutqers, E. J., Westenend, P. J., Smit, G. M., & Benraadt, J. (2008). Richtlijn 'screening en diagnostiek van het mammacarcinoom' (herziening). Nederlands Tijdschrift voor Geneeskunde, 152(43), 2336-2339.
  19. 2007
  20. 2006
  21. 2005
  22. 2004
  23. Winkel, LPF., Van den Hout, JMP., Kamphoven, JHJ., Disseldorp, JAM., Remmerswaal, M., Arts, WFM., Loonen, MCB., Vulto, AG., Van Doorn, PA., De Jong, G., Hop, W., Smit, GPA., Shapira, SK., Boer, MA., van Diggelen, OP., Reuser, AJJ., & Van der Ploeg, AT. (2004). Enzyme replacement therapy in late-onset Pompe's disease: A three-year follow-up. Annals of Neurology, 55(4), 495-502. https://doi.org/10.1002/ana.20019
  24. Melis, D., Havelaar, AC., Smit, GPA., Benedetti, A., Mancini, GMS., & Verheijen, F. (2004). NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic. Journal of Inherited Metabolic Disease, 27(6), 725-733.
  25. 2003
  26. van den Hout, HMP., Hop, W., van Diggelen, OP., Smeitink, JAM., Smit, GPA., Poll-The, BTT., Bakker, HD., Loonen, MCB., de Klerk, JBC., Reuser, AJJ., & van der Ploeg, AT. (2003). The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics, 112(2), 332-340.
  27. Kuijpers, TW., Maianski, NA., Tool, ATJ., Smit, GPA., Rake, JP., Roos, D., & Visser, G. (2003). Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). Blood, 101(12), 5021-5024. https://doi.org/10.1182/blood-2002-10-3128
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