Research output per year
Research output per year
Personal profile
Research interests
Peroxisome Biogenesis Disorders
Specialisation
Pediatric Neurology - Peroxisome Biogenesis Disorders
Research interests
Neurometabolic disorders
Research interests
Peroxisomal single enzyme deficiencies
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Dive into the research topics where Femke Klouwer is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects
Polak, Y., Kemper, E. M., Engelen, M., Klouwer, F. C. C., Berendse, K., Vaz, F. M., Koot, B. G. P., Swart, E. L. & Hollak, C. E. M., 1 Jul 2025, In: Journal of inherited metabolic disease. 48, 4, e70062.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
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
Open AccessFile1 Downloads (Pure) -
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Klouwer, F. C. C., Roosendaal, S. D., Hollak, C. E. M., Langeveld, M., Poll-The, B. T., Sorge, A. J. V., Wolf, N. I., Knaap, M. S. V. D. & Engelen, M., 1 Dec 2024, In: Orphanet journal of rare diseases. 19, 1, 350.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile21 Downloads (Pure) -
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
Open AccessFile16 Downloads (Pure) -
The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review
Polak, Y., van Dussen, L., Kemper, E. M., Vaz, F. M., Klouwer, F. C. C., Engelen, M. & Hollak, C. E. M., 19 Dec 2024, In: Orphanet journal of rare diseases. 19, 1, p. 466 466.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile13 Downloads (Pure)