Publications by authors named "Jan P Marchal"

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Screening for Neurocognitive Deficits in Pediatrics-the Clinical Utility of the Pediatric Perceived Cognitive Functioning item bank.
Marieke de Vries, Jan Pieter Marchal, Heleen Maurice-Stam, Berdien Mulder, Martha Grootenhuis

Arch Clin Neuropsychol· November 2025

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A qualitative study on the impact of hemophilia on sexual functioning and well-being in Dutch men.
Tessa C M van Gastel, Lorynn Teela, Vicky Lehmann, Martijn R Brands, Jan P Marchal

J Patient Rep Outcomes· September 2025

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Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Frits A Wijburg, Fiona Heap, Stewart Rust, Jessica de Ruijter, Evelien Tump, Jan Pieter Marchal

Mol Genet Metab· December 2021

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Health-Related Quality of Life in Patients With Early-Detected Central Congenital Hypothyroidism.
Jolanda C Naafs, Jan Pieter Marchal, Paul H Verkerk, Eric Fliers, A S Paul van Trotsenburg

J Clin Endocrinol Metab· September 2021

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Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings.
Jolanda C Naafs, Jan Pieter Marchal, Eric Fliers, Paul H Verkerk, Michiel A J Luijten

J Clin Endocrinol Metab· March 2021

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The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Stephanie C M Nijmeijer, L Ingeborg van den Born, Anneke J A Kievit, Karolina M Stepien, Janneke Langendonk, Jan Pieter Marchal

Orphanet J Rare Dis· November 2019

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Pediatric Perceived Cognitive Functioning: Psychometric Properties and Normative Data of the Dutch Item Bank and Short Form.
Jan Pieter Marchal, Marieke de Vries, Judith Conijn, André B Rietman, Hanneke IJsselstijn

J Int Neuropsychol Soc· September 2019

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Distress and everyday problems in Dutch mothers and fathers of young adolescents with Down syndrome.
Jan Pieter Marchal, Hedy A van Oers, Heleen Maurice-Stam, Martha A Grootenhuis, A S Paul van Trotsenburg

Res Dev Disabil· August 2017

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Early thyroxine treatment in Down syndrome and thyroid function later in life.
Nitash Zwaveling-Soonawala, M Emma Witteveen, Jan Pieter Marchal, Femke C C Klouwer, Nadine A Ikelaar

Eur J Endocrinol· May 2017

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Mothers and fathers of young Dutch adolescents with Down syndrome: Health related quality of life and family functioning.
Jan Pieter Marchal, Heleen Maurice-Stam, A S Paul van Trotsenburg, Martha A Grootenhuis

Res Dev Disabil· December 2016

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Growing up with Down syndrome: Development from 6 months to 10.7 years.
Jan Pieter Marchal, Heleen Maurice-Stam, Bregje A Houtzager, Susanne L Rutgers van Rozenburg-Marres, Kim J Oostrom

Res Dev Disabil· December 2016

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A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.
Simon A Jones, Catherine Breen, Fiona Heap, Stewart Rust, Jessica de Ruijter, Jan Pieter Marchal

Mol Genet Metab· July 2016

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Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.
Lindsey Welling, Jan Pieter Marchal, Peter van Hasselt, Ans T van der Ploeg, Frits A Wijburg

JIMD Rep· March 2015

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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.
Jan Pieter Marchal, Heleen Maurice-Stam, Nadine A Ikelaar, Femke C C Klouwer, Kim W J Verhorstert

J Clin Endocrinol Metab· December 2014

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Health related quality of life in parents of six to eight year old children with Down syndrome.
Jan Pieter Marchal, Heleen Maurice-Stam, Janneke Hatzmann, A S Paul van Trotsenburg, Martha A Grootenhuis

Res Dev Disabil· November 2013

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Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).
Marlies J Valstar, Jan Pieter Marchal, Martha Grootenhuis, Vivian Colland, Frits A Wijburg

Orphanet J Rare Dis· June 2011

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