Research output per year
Research output per year
Research output
- 14 Article
- 14 results
Search results
-
2021
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) -
2019
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 Access24 Citations (Scopus) -
2017
Distress and everyday problems in Dutch mothers and fathers of young adolescents with Down syndrome
Marchal, J. P., van Oers, H. A., Maurice-Stam, H., Grootenhuis, M. A., van Trotsenburg, A. S. P. & Haverman, L., 2017, In: Research in developmental disabilities. 67, p. 19-27Research output: Contribution to journal › Article › Academic › peer-review
15 Citations (Scopus) -
Early thyroxine treatment in Down syndrome and thyroid function later in life
Zwaveling-Soonawala, N., Witteveen, M. E., Marchal, J. P., Klouwer, F. C. C., Ikelaar, N. A., Smets, A. M. J. B., van Rijn, R. R., Endert, E., Fliers, E. & van Trotsenburg, A. S. P., 2017, In: European journal of endocrinology / European Federation of Endocrine Societies. 176, 5, p. 505-513Research output: Contribution to journal › Article › Academic › peer-review
15 Citations (Scopus) -
2016
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA
Jones, S. A., Breen, C., Heap, F., Rust, S., de Ruijter, J., Tump, E., Marchal, J. P., Pan, L., Qiu, Y., Chung, J-K., Nair, N., Haslett, P. A. J., Barbier, A. J. & Wijburg, F. A., 2016, In: Molecular Genetics and Metabolism. 118, 3, p. 198-205Research output: Contribution to journal › Article › Academic › peer-review
80 Citations (Scopus) -
Growing up with Down syndrome: Development from 6 months to 10.7 years
Marchal, J. P., Maurice-Stam, H., Houtzager, B. A., Rutgers van Rozenburg-Marres, S. L., Oostrom, K. J., Grootenhuis, M. A. & van Trotsenburg, A. S. P., 2016, In: Research in developmental disabilities. 59, p. 437-450Research output: Contribution to journal › Article › Academic › peer-review
49 Citations (Scopus) -
Mothers and fathers of young Dutch adolescents with Down syndrome: Health related quality of life and family functioning
Marchal, J. P., Maurice-Stam, H., van Trotsenburg, A. S. P. & Grootenhuis, M. A., 2016, In: Research in developmental disabilities. 59, p. 359-369Research output: Contribution to journal › Article › Academic › peer-review
26 Citations (Scopus) -
2015
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III
Welling, L., Marchal, J. P., van Hasselt, P., van der Ploeg, A. T., Wijburg, F. A. & Boelens, J. J., 2015, In: JIMD reports. 18, p. 63-68Research output: Contribution to journal › Article › Academic › peer-review
40 Citations (Scopus) -
2014
Effects of early thyroxine treatment on development and growth at age 10.7 years: follow-up of a randomized placebo-controlled trial in children with Down's syndrome
Marchal, J. P., Maurice-Stam, H., Ikelaar, N. A., Klouwer, F. C. C., Verhorstert, K. W. J., Witteveen, M. E., Houtzager, B. A., Grootenhuis, M. A. & van Trotsenburg, A. S. P., 2014, In: Journal of clinical endocrinology and metabolism. 99, 12, p. E2722-E2729Research output: Contribution to journal › Article › Academic › peer-review
35 Citations (Scopus) -
2013
Health related quality of life in parents of six to eight year old children with Down syndrome
Marchal, J. P., Maurice-Stam, H., Hatzmann, J., van Trotsenburg, A. S. P. & Grootenhuis, M. A., 2013, In: Research in developmental disabilities. 34, 11, p. 4239-4247Research output: Contribution to journal › Article › Academic › peer-review
28 Citations (Scopus) -
2011
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
Valstar, M. J., Marchal, J. P., Grootenhuis, M., Colland, V. & Wijburg, F. A., 2011, In: Orphanet Journal of Rare Diseases. 6, 1, p. 43Research output: Contribution to journal › Article › Academic › peer-review
86 Citations (Scopus)