Stephanie C. M. Nijmeijer

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 · 47 citations · Full text

Medicine, Neurology, Neuroscience +16

Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism

Stephanie C. M. Nijmeijer, Thirsa Conijn, Phillis Lakeman et al. · Molecular Genetics and Metabolism · 2018 · 44 citations

Life Sciences, Genetics, Molecular Genetics +15

Psychosocial Functioning in Parents of MPS III Patients

Thirsa Conijn, Stephanie C. M. Nijmeijer, Hedy A. van Oers et al. · JIMD Reports · 2018 · 32 citations · Full text

Medicine, Neurology, Psychiatry +17

Cardiac disease in mucopolysaccharidosis type III

Stephanie C. M. Nijmeijer, Rianne H.A.C.M. de Bruin‐Bon, Frits A. Wijburg et al. · Journal of Inherited Metabolic Disease · 2019 · 23 citations · Full text

Medicine, Cardiology, Pediatrics +15

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

Suzan J. G. Knottnerus, Stephanie C. M. Nijmeijer, Lodewijk IJlst et al. · Annals of Neurology · 2017 · 21 citations · Full text

Life Sciences, Genetics, Pediatrics +16