Projects 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
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 2 Active
-
Poll-The B.T.: Genetic and congenital disorders of the nervous system and neurometabolic diseases
van Dijk, T., Huffnagel, I., Klouwer, F. & Poll-The, B.
1/06/2007 → …
Project: Research
-
Waterham H.R.: Defects in isoprenoid biosynthesis and peroxisome biogenesis
Falkenberg, K., Herzog, K., Klouwer, F., Waterham, H., Wanders, R., Koster, J. & Turkenburg, M.
1/01/2006 → …
Project: Research
-
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 Access -
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
Open Access1 Citation (Scopus) -
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement
DADA2 Foundation, 31 May 2023, In: JAMA network open. 6, 5, p. e2315894 e2315894.Research output: Contribution to journal › Article › Academic › peer-review
Open Access8 Citations (Scopus) -
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients
Koens, L. H., Tuitert, I., Blokzijl, H., Engelen, M., Klouwer, F. C. C., Lange, F., Leen, W. G., Lunsing, R. J., Koelman, J. H. T. M., Verrips, A., de Koning, T. J. & Tijssen, M. A. J., 1 Sept 2022, In: Journal of Inherited Metabolic Disease. 45, 5, p. 981-995 15 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
Peroxisomal Disorders
Wanders, R. J. A., Klouwer, F. C. C., Engelen, M. & Waterham, H. R., 1 Jan 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition. Springer International Publishing, p. 1297-1317 (Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition).Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
1 Citation (Scopus)