Desiree Smith


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Research Output 2007 2018

  • 21 Article
  • 1 Meeting Abstract
  • 1 Research VU University Amsterdam, graduation VU University Amsterdam

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, M. I., Salazar, M. G., Guerrero, K., Thiffault, I., Salomons, G. S., Gauquelin, L., Tran, L. T., Forget, D., Gauthier, M-S., Waisfisz, Q., Smith, D. E. C., Simons, C., van der Knaap, M. S., Marquardt, I., Lemes, A., Mierzewska, H., Weschke, B., Koehler, W., Coulombe, B., Wolf, N. I. & 1 othersBernard, G., 5 Apr 2018, In : American journal of human genetics. 102, 4, p. 676-684

Research output: Contribution to journalArticleAcademicpeer-review

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Mendes, M. I., Smith, D. E. C., Pop, A., Lennertz, P., Fernandez Ojeda, M. R., Kanhai, W. A., van Dooren, S. J. M., Anikster, Y., Barić, I., Boelen, C., Campistol, J., de Boer, L., Kariminejad, A., Kayserili, H., Roubertie, A., Verbruggen, K. T., Vianey-Saban, C., Williams, M. & Salomons, G. S., 1 May 2017, In : Human Mutation. 38, 5, p. 524-531 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Folic Acid Impairs the Uptake of 5-Methyltetrahydrofolate in Human Umbilical Vascular Endothelial Cells

Smith, D., Hornstra, J., Rocha, M., Jansen, G., Assaraf, Y., Lasry, I., Blom, H. & Smulders, Y. M., 1 Oct 2017, In : Journal of Cardiovascular Pharmacology. 70, 4, p. 271-275 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

ImmunoPET imaging to assess target engagement: Experience from Zr-89-anti-HER3 mAb (GSK2849330) in patients with solid tumors

Mcgeoch, A., van Oordt, C. M. D. H., Bergstrom, M., McSherry, I., Smith, D., Cleveland, M., Hoekstra, O., Vugts, D., Weber, A., Freedman, I., Huisman, M., Matheny, C., van Dongen, G. & Zhang, S., Oct 2017, In : European Journal of Nuclear Medicine and Molecular Imaging. 44, p. S314-S315

Research output: Contribution to journalMeeting AbstractAcademic

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene

Mercimek-Mahmutoglu, S., Pop, A., Kanhai, W., Ojeda, M. F., Holwerda, U., Smith, D. E. C., Loeber, J. G., Schielen, P. C. J. I. & Salomons, G. S., 1 Jan 2016, In : Gene. 575, 1, p. 127-131

Research output: Contribution to journalArticleAcademicpeer-review