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
Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening
Nijmeijer, Stephanie C M, Conijn, Thirsa, Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A, Haverman, Lotte
Published in European journal of human genetics : EJHG (01.10.2020)
Published in European journal of human genetics : EJHG (01.10.2020)
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Journal Article
Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism
Nijmeijer, Stephanie C.M., Conijn, Thirsa, Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A., Haverman, Lotte
Published in Molecular genetics and metabolism (01.01.2019)
Published in Molecular genetics and metabolism (01.01.2019)
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Journal Article
Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes
Conijn, Thirsa, Nijmeijer, Stephanie C. M., Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A., Haverman, Lotte
Published in Journal of genetic counseling (01.04.2021)
Published in Journal of genetic counseling (01.04.2021)
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Journal Article
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA
Knottnerus, Suzan J. G., Nijmeijer, Stephanie C. M., IJlst, Lodewijk, te Brinke, Heleen, van Vlies, Naomi, Wijburg, Frits A.
Published in Annals of neurology (01.11.2017)
Published in Annals of neurology (01.11.2017)
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Journal Article
Cardiac disease in mucopolysaccharidosis type III
Nijmeijer, Stephanie C. M., de Bruin‐Bon, Rianne H.A.C.M., Wijburg, Frits A., Kuipers, Irene M.
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Journal Article
Limited data to evaluate real‐world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I
Kuiper, Gé‐Ann, Nijmeijer, Stephanie C. M., Roelofs, Manouck J. M., Lee, Johanneke H., Hollak, Carla E. M., Bosch, Annet M.
Published in Journal of inherited metabolic disease (01.09.2019)
Published in Journal of inherited metabolic disease (01.09.2019)
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Journal Article
Psychosocial Functioning in Parents of MPS III Patients
Conijn, Thirsa, Nijmeijer, Stephanie C. M., van Oers, Hedy A., Wijburg, Frits A., Haverman, Lotte
Published in JIMD Reports, Volume 44 (2019)
Published in JIMD Reports, Volume 44 (2019)
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