Jan Pieter Marchal

A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA

Simon Jones, Catherine Breen, Fiona Heap et al. · Molecular Genetics and Metabolism · 2016 · 123 citations · Full text

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

M. J. Valstar, Jan Pieter Marchal, Martha A. Grootenhuis et al. · Orphanet Journal of Rare Diseases · 2011 · 111 citations · Full text

Growing up with Down syndrome: Development from 6 months to 10.7 years

Jan Pieter Marchal, Heleen Maurice‐Stam, Bregje A. Houtzager et al. · Research in Developmental Disabilities · 2016 · 60 citations

Down Syndrome, Family Medicine, Developmental Anomaly +7

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 et al. · JIMD Reports · 2014 · 47 citations · Full text

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.I. van den Born, Anneke J.A. Kievit et al. · Orphanet Journal of Rare Diseases · 2019 · 43 citations · Full text