The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Nijmeijer, Stephanie C M, van den Born, L Ingeborg, Kievit, Anneke J A, Stepien, Karolina M, Langendonk, Janneke, Marchal, Jan Pieter, Roosing, Susanne, Wijburg, Frits A, Wagenmakers, Margreet A E M
Published in Orphanet journal of rare diseases (12.11.2019)
Published in Orphanet journal of rare diseases (12.11.2019)
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Journal Article
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
Wijburg, Frits A., Heap, Fiona, Rust, Stewart, de Ruijter, Jessica, Tump, Evelien, Marchal, Jan Pieter, Nestrasil, Igor, Shapiro, Elsa, Jones, Simon A., Alexanderian, David
Published in Molecular genetics and metabolism (01.12.2021)
Published in Molecular genetics and metabolism (01.12.2021)
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Journal Article
A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA
Jones, Simon A., Breen, Catherine, Heap, Fiona, Rust, Stewart, de Ruijter, Jessica, Tump, Evelien, Marchal, Jan Pieter, Pan, Luying, Qiu, Yongchang, Chung, Jou-Ku, Nair, Nitin, Haslett, Patrick A.J., Barbier, Ann J., Wijburg, Frits A.
Published in Molecular genetics and metabolism (01.07.2016)
Published in Molecular genetics and metabolism (01.07.2016)
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Journal Article
Health-related quality of life in patients with early-detected central congenital hypothyroidism
Naafs, Jolanda Christine, Marchal, Jan Pieter, Verkerk, Paul Hendrikus, Fliers, Eric, van Trotsenburg, Adrianus Sarinus Paulus, Zwaveling-Soonawala, Nitash
Published in The journal of clinical endocrinology and metabolism (01.10.2021)
Published in The journal of clinical endocrinology and metabolism (01.10.2021)
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Journal Article
Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings
Naafs, Jolanda C, Marchal, Jan Pieter, Fliers, Eric, Verkerk, Paul H, Luijten, Michiel A J, Boelen, Anita, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash
Published in The journal of clinical endocrinology and metabolism (08.03.2021)
Published in The journal of clinical endocrinology and metabolism (08.03.2021)
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Journal Article
Growing up with Down syndrome: Development from 6 months to 10.7 years
Marchal, Jan Pieter, Maurice-Stam, Heleen, Houtzager, Bregje A., Rutgers van Rozenburg-Marres, Susanne L., Oostrom, Kim J., Grootenhuis, Martha A., van Trotsenburg, A.S. Paul
Published in Research in developmental disabilities (01.12.2016)
Published in Research in developmental disabilities (01.12.2016)
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Journal Article
Pediatric Perceived Cognitive Functioning: Psychometric Properties and Normative Data of the Dutch Item Bank and Short Form
Marchal, Jan Pieter, de Vries, Marieke, Conijn, Judith, Rietman, André B, IJsselstijn, Hanneke, Tibboel, Dick, Haverman, Lotte, Maurice-Stam, Heleen, Oostrom, Kim J, Grootenhuis, Martha A
Published in Journal of the International Neuropsychological Society (01.09.2019)
Published in Journal of the International Neuropsychological Society (01.09.2019)
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Journal Article
Mothers and fathers of young Dutch adolescents with Down syndrome: Health related quality of life and family functioning
Marchal, Jan Pieter, Maurice-Stam, Heleen, van Trotsenburg, A.S. Paul, Grootenhuis, Martha A.
Published in Research in developmental disabilities (01.12.2016)
Published in Research in developmental disabilities (01.12.2016)
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Journal Article
Distress and everyday problems in Dutch mothers and fathers of young adolescents with Down syndrome
Marchal, Jan Pieter, van Oers, Hedy A., Maurice-Stam, Heleen, Grootenhuis, Martha A., van Trotsenburg, A.S. Paul, Haverman, Lotte
Published in Research in developmental disabilities (01.08.2017)
Published in Research in developmental disabilities (01.08.2017)
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Journal Article
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, Jan Pieter, Maurice-Stam, Heleen, Ikelaar, Nadine A, Klouwer, Femke C. C, Verhorstert, Kim W. J, Witteveen, M. Emma, Houtzager, Bregje A, Grootenhuis, Martha A, van Trotsenburg, A. S. Paul
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
Published in The journal of clinical endocrinology and metabolism (01.12.2014)
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Journal Article
Early thyroxine treatment in Down syndrome and thyroid function later in life
Zwaveling-Soonawala, Nitash, Witteveen, M Emma, Marchal, Jan Pieter, Klouwer, Femke C C, Ikelaar, Nadine A, Smets, Anne M J B, van Rijn, Rick R, Endert, Erik, Fliers, Eric, van Trotsenburg, A S Paul
Published in European journal of endocrinology (01.05.2017)
Published in European journal of endocrinology (01.05.2017)
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Journal Article
Health related quality of life in parents of six to eight year old children with Down syndrome
Marchal, Jan Pieter, Maurice-Stam, Heleen, Hatzmann, Janneke, van Trotsenburg, A.S. Paul, Grootenhuis, Martha A.
Published in Research in developmental disabilities (01.11.2013)
Published in Research in developmental disabilities (01.11.2013)
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Journal Article
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III
Welling, Lindsey, Marchal, Jan Pieter, van Hasselt, Peter, van der Ploeg, Ans T., Wijburg, Frits A., Boelens, Jaap Jan
Published in JIMD Reports, Volume 18 (01.01.2015)
Published in JIMD Reports, Volume 18 (01.01.2015)
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Book Chapter
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