19982018

Research output per year

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Research Output

  • 11 Article
  • 1 Conference Abstract/Poster in journal

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

Korver-Keularts, I. M. L. W., Wang, P., Waterval, H. W. A. H., Kluijtmans, L. A. J., Wevers, R. A., Langhans, C-D., Scott, C., Habets, D. D. J. & Bierau, J., May 2018, In : Journal of Inherited Metabolic Disease. 41, 3, p. 415-424 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Coene, K. L. M., Kluijtmans, L. A. J., van der Heeft, E., Engelke, U. F. H., de Boer, S., Hoegen, B., Kwast, H. J. T., van de Vorst, M., Huigen, M. C. D. G., Keularts, I. M. L. W., Schreuder, M. F., van Karnebeek, C. D. M., Wortmann, S. B., de Vries, M. C., Janssen, M. C. H., Gilissen, C., Engel, J. & Wevers, R. A., 1 May 2018, In : Journal of Inherited Metabolic Disease. 41, 3, p. 337-353 17 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schluter, A., Ruiz, M., Pujol, A., Engvall, M., Naess, K., van Spronsen, F., Korver-Keularts, I., Rubio-Gozalbo, M. E., Ferdinandusse, S., Wanders, R. J. A. & Waterham, H. R., 7 Dec 2017, In : American Journal of Human Genetics. 101, 6, p. 965-976 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

van Ginkel, W. G., Jahja, R., Huijbregts, S. C. J., Daly, A., MacDonald, A., De Laet, C., Cassiman, D., Eyskens, F., Keularts, I., Goyens, P. J., McKiernan, P. J. & van Spronsen, F. J., 29 Jun 2016, In : Orphanet Journal of Rare Diseases. 11, 87.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
1 Citation (Scopus)

Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome

Halbach, N. S. J., Smeets, E. E. J., Bierau, J., Keularts, I. M. L. W., Plasqui, G., Julu, P. O. O., Engerström, I. W., Bakker, J. A. & Curfs, L. M. G., 2012, In : JIMD reports. 3, p. 117-24 8 p.

Research output: Contribution to journalArticleAcademicpeer-review