Projects per year
Personal profile
Research interests
Long term effects of Thyroxine treatment in young children with Down syndrome on mental and motor development .
Educational placement of children with Down syndrome.
Quality of life in parents of children with Down syndrome.
Mental and motor development of children with Sanfilippo syndrom.
specialisation
Collaborations and top research areas from the last five years
Projects
- 1 Finished
-
Grootenhuis M.A.: Psychosocial consequences of chronic and life-threatening illness during childhood
Grootenhuis, M., van Dijk, M., Maurice - Stam, H., Scholten, L., van der Sluijs Veer, L., Haverman, L., Walraven, F., Colenbrander, A., Douma, M., Jagt, C., Limperg, P., Marchal, J. P., van Oers, H., Schepers, S., Smets, A., de Vries, M., Buijs, M. & Sintnicoloaas, S.
1/06/2008 → 1/12/2023
Project: Research
Research output
- 14 Article
-
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings
Naafs, J. C., Marchal, J. P., Fliers, E., Verkerk, P. H., Luijten, M. A. J., Boelen, A., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Mar 2021, In: Journal of clinical endocrinology and metabolism. 106, 3, p. e1231-e1239Research output: Contribution to journal › Article › Academic › peer-review
Open Access6 Citations (Scopus) -
Health-related quality of life in patients with early-detected central congenital hypothyroidism
Naafs, J. C., Marchal, J. P., Verkerk, P. H., Fliers, E., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Oct 2021, In: Journal of clinical endocrinology and metabolism. 106, 10, p. E4231-E4241Research output: Contribution to journal › Article › Academic › peer-review
Open Access3 Citations (Scopus) -
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
Wijburg, F. A., Heap, F., Rust, S., de Ruijter, J., Tump, E., Marchal, J. P., Nestrasil, I., Shapiro, E., Jones, S. A. & Alexanderian, D., Dec 2021, In: Molecular Genetics and Metabolism. 134, 4, p. 317-322 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access4 Citations (Scopus) -
Pediatric Perceived Cognitive Functioning: Psychometric Properties and Normative Data of the Dutch Item Bank and Short Form
Marchal, J. P., de Vries, M., Conijn, J., Rietman, A. B., Ijsselstijn, H., Tibboel, D., Haverman, L., Maurice-Stam, H., Oostrom, K. J. & Grootenhuis, M. A., 2019, In: Journal of the International Neuropsychological Society. 25, 8, p. 845-856 12 p.Research output: Contribution to journal › Article › Academic › peer-review
5 Citations (Scopus) -
The attenuated end of the phenotypic spectrum in MPS III: From late-onset stable cognitive impairment to a non-neuronopathic phenotype
Nijmeijer, S. C. M., van den Born, L. I., Kievit, A. J. A., Stepien, K. M., Langendonk, J., Marchal, J. P., Roosing, S., Wijburg, F. A. & Wagenmakers, M. A. E. M., 2019, In: Orphanet Journal of Rare Diseases. 14, 1, 249.Research output: Contribution to journal › Article › Academic › peer-review
Open Access25 Citations (Scopus)