Specialization
Pediatric Neurology - Peroxisome Biogenesis Disorders
Focus of research
Peroxisome Biogenesis Disorders
Neurometabolic disorders
Peroxisomal single enzyme deficiencies
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Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study
Verschoof, M. A., van Meenen, L. C. C., Andriessen, M. V. E., Brinkman, D. M. C., Kamphuis, S., Kuijpers, T. W., Leavis, H. L., Legger, G. E., Mulders-Manders, C. M., de Pagter, A. P. J., Rutgers, A., van Well, G. T. J., Coutinho, J. M., Hak, A. E., van Montfrans, J. M. & Klouwer, F. C. C., Jan 2024, In: European journal of neurology. 31, 1, e16043.Research output: Contribution to journal › Article › Academic › peer-review
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Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder
Karuntu, J. S., Klouwer, F. C. C., Engelen, M. & Boon, C. J. F., 2024, In: Ophthalmic Genetics. 45, 4, p. 351-362 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort
Andriessen, M. V. E., Legger, G. E., Bredius, R. G. M., van Gijn, M. E., Hak, A. E., Muller, P. C. E. H., Kamphuis, S., Klouwer, F. C. C., Kuijpers, T. W., Leavis, H. L., Nierkens, S., Rutgers, A., van der Veken, L. T., van Well, G. T. J., Mulders-Manders, C. M. & van Montfrans, J. M., Oct 2023, In: Journal of clinical immunology. 43, 7, p. 1581-1596 16 p.Research output: Contribution to journal › Article › Academic › peer-review
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