1. 2021
  2. Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

    Klouwer, F. C. C., Falkenberg, K. D., Ofman, R., Koster, J., van Gent, D. M., Ferdinandusse, S., Wanders, R. J. A. & Waterham, H. R., 1 Apr 2021, In: Frontiers in cell and developmental biology. 9, 661298.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. 2018
  4. Identification and characterization of novel peroxisomal disorders

    Falkenberg, K. D., 2018

    Research output: ThesisPhd-Thesis - Research and graduation internal

  5. 2017
  6. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

    Ferdinandusse, S., Falkenberg, K. D., Koster, J., Mooyer, P. A., Jones, R., van Roermund, C. W. T., Pizzino, A., Schrader, M., Wanders, R. J. A., Vanderver, A. & Waterham, H. R., 2017, In: Journal of medical genetics. 54, 5, p. 330-337

    Research output: Contribution to journalArticleAcademicpeer-review

  7. 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., Schlüter, A., Ruiz, M., Pujol, A., Engvall, M., Naess, K., van Spronsen, F., Körver-Keularts, I., Rubio-Gozalbo, M. E., Ferdinandusse, S., Wanders, R. J. A. & Waterham, H. R., 2017, In: American journal of human genetics. 101, 6, p. 965-976

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

    Bjørgo, K., Fjær, R., Mørk, H. H., Ferdinandusse, S., Falkenberg, K. D., Waterham, H. R., Øye, A-M., Sikiric, A., Amundsen, S. S., Kulseth, M. A. & Selmer, K., 2017, In: Molecular genetics and metabolism. 121, 4, p. 325-328

    Research output: Contribution to journalArticleAcademicpeer-review

  9. 2015
  10. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

    Ratbi, I., Falkenberg, K. D., Sommen, M., Al-Sheqaih, N., Guaoua, S., Vandeweyer, G., Urquhart, J. E., Chandler, K. E., Williams, S. G., Roberts, N. A., El Alloussi, M., Black, G. C., Ferdinandusse, S., Ramdi, H., Heimler, A., Fryer, A., Lynch, S-A., Cooper, N., Ong, K. R., Smith, C. E. L. & 11 others, Inglehearn, C. F., Mighell, A. J., Elcock, C., Poulter, J. A., Tischkowitz, M., Davies, S. J., Sefiani, A., Mironov, A. A., Newman, W. G., Waterham, H. R. & van Camp, G., 2015, In: American journal of human genetics. 97, 4, p. 535-545

    Research output: Contribution to journalArticleAcademicpeer-review

ID: 54987