| Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome) MJ Valstar, JP Marchal, M Grootenhuis, V Colland, FA Wijburg Orphanet journal of rare diseases 6, 1-6, 2011 | 135 | 2011 |
| A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA SA Jones, C Breen, F Heap, S Rust, J de Ruijter, E Tump, JP Marchal, ... Molecular genetics and metabolism 118 (3), 198-205, 2016 | 108 | 2016 |
| Growing up with Down syndrome: Development from 6 months to 10.7 years JP Marchal, H Maurice-Stam, BA Houtzager, SLR van Rozenburg-Marres, ... Research in Developmental Disabilities 59, 437-450, 2016 | 77 | 2016 |
| Mothers and fathers of young Dutch adolescents with Down syndrome: Health related quality of life and family functioning JP Marchal, H Maurice-Stam, ASP van Trotsenburg, MA Grootenhuis Research in developmental disabilities 59, 359-369, 2016 | 68 | 2016 |
| Early umbilical cord blood-derived stem cell transplantation does not prevent neurological deterioration in mucopolysaccharidosis type III L Welling, JP Marchal, P van Hasselt, AT van der Ploeg, FA Wijburg, ... JIMD Reports, Volume 18, 63-68, 2015 | 56 | 2015 |
| Health related quality of life in parents of six to eight year old children with Down syndrome JP Marchal, H Maurice-Stam, J Hatzmann, ASP van Trotsenburg, ... Research in developmental disabilities 34 (11), 4239-4247, 2013 | 53 | 2013 |
| 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 JP Marchal, H Maurice-Stam, NA Ikelaar, FCC Klouwer, KWJ Verhorstert, ... The Journal of Clinical Endocrinology & Metabolism 99 (12), E2722-E2729, 2014 | 49 | 2014 |
| The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype SCM Nijmeijer, LI van den Born, AJA Kievit, KM Stepien, J Langendonk, ... Orphanet journal of rare diseases 14, 1-10, 2019 | 33 | 2019 |
| Distress and everyday problems in Dutch mothers and fathers of young adolescents with Down syndrome JP Marchal, HA van Oers, H Maurice-Stam, MA Grootenhuis, ... Research in developmental disabilities 67, 19-27, 2017 | 29 | 2017 |
| Early thyroxine treatment in Down syndrome and thyroid function later in life N Zwaveling-Soonawala, ME Witteveen, JP Marchal, FCC Klouwer, ... European Journal of Endocrinology 176 (5), 505-513, 2017 | 27 | 2017 |
| Cognitive outcome in congenital central hypothyroidism: a systematic review with meta-analysis of individual patient data JC Naafs, LM Vendrig, J Limpens, HJ Van Der Lee, RG Duijnhoven, ... European Journal of Endocrinology 182 (3), 351-361, 2020 | 23 | 2020 |
| Cognitive and motor outcome in patients with early-detected central congenital hypothyroidism compared with siblings JC Naafs, JP Marchal, E Fliers, PH Verkerk, MAJ Luijten, A Boelen, ... The Journal of Clinical Endocrinology & Metabolism 106 (3), e1231-e1239, 2021 | 15 | 2021 |
| Adaptive behavior impaired in children with low‐grade glioma RS de Lande, H Maurice‐Stam, JP Marchal, DG Vuurden, WP Vandertop, ... Pediatric Blood & Cancer 66 (1), e27419, 2019 | 9 | 2019 |
| Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A FA Wijburg, F Heap, S Rust, J de Ruijter, E Tump, JP Marchal, I Nestrasil, ... Molecular Genetics and Metabolism 134 (4), 317-322, 2021 | 8 | 2021 |
| Health-related quality of life in patients with early-detected central congenital hypothyroidism JC Naafs, JP Marchal, PH Verkerk, E Fliers, ASP van Trotsenburg, ... The Journal of Clinical Endocrinology & Metabolism 106 (10), e4231-e4241, 2021 | 7 | 2021 |
| Pediatric perceived cognitive functioning: psychometric properties and normative data of the Dutch Item Bank and Short Form JP Marchal, M De Vries, J Conijn, AB Rietman, H IJsselstijn, D Tibboel, ... Journal of the International Neuropsychological Society 25 (8), 845-856, 2019 | 6 | 2019 |
| H., Trotsenburg, AP, & Grootenhuis, MA (2017). Mothers and fathers of young Dutch adolescents with Down syndrome: Health related quality of life and family functioning JP Marchal, S Maurice Res Dev Disabil 59, 359-369, 0 | 6 | |
| Growing up with Down syndrome JP Marshal The developing child and parents [dissertation]. Amesterdam: University …, 2017 | 5 | 2017 |
| Design, baseline characteristics, and 18-24 months follow-up from the MPS IIIA natural history study F Wijburg, S Parker, P Drevot, A Le Meur, A Chakrapani, V Coutinho, ... Mol. Genet. Metab 126 (2), 2019 | 3 | 2019 |
