Dr. M. Langeveld

Main activities
Patient care, Research
Inherited metabolic disorders
Focus of research

My research focusses on inherited metabolic diseases in adults, with an emphasis on lysosomal storage disorders (LSDs). LSD research is embedded in SPHINX, a collaboration of the departments of Radiology, Internal Medicine and Paediatrics and the Laboratory of Genetic and Metabolic Diseases of the AMC. Within the LDSs, my main focus is Fabry disease, with the following ongoing research projects: 1. the characterisation of the antibody response to enzyme replacement therapy 2. cognitive symptoms in Fabry disease and their relation to white matter abnormalities. In addition we participate in an international trial studying the safety and efficacy of a new form of enzyme replacement therapy.

Other research activities are a an exploratory study into the role the microbiome in urea cycle disorders and supervision of a PhD project on skeletal complications in mucopolysaccharidosis and mucolipidosis. I’m an active member of the Internisten voor Erfelijke Stofwisselingsziekten (INVEST) group, currently coordinating the construction of the INVEST website, containing information on care of adults with inherited metabolic disorders in the Netherlands and Belgium (Vlaanderen).  


Key publications
  • Oussoren E, Bessems JHJM, Pollet V, van der Meijden JC, van der Giessen LJ, Plug I, Devos AS, Ruijter GJG, van der Ploeg AT, Langeveld M, A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI. MOL GENET METAB 2017;121 (3):241-251 [PubMed]
  • Arends M, Wijburg FA, Wanner C, Vaz FM, van Kuilenburg ABP, Hughes DA, Biegstraaten M, Mehta A, Hollak CEM, Langeveld M, Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease. MOL GENET METAB 2017;121 (2):157-161 [PubMed]
  • Langeveld M, Aerts JMFG, Glycosphingolipids and insulin resistance. PROG LIPID RES 2009;48 (3-4):196-205 [PubMed]
  • Langeveld M, Ghauharali KJM, Sauerwein HP, Ackermans MT, Groener JEM, Hollak CEM, Aerts JM, Serlie MJ, Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance. J CLIN ENDOCR METAB 2008;93 (3):845-851 [PubMed]
  • de Fost M, Langeveld M, Franssen R, Hutten BA, Groener JEM, de Groot E, Mannens MM, Bikker H, Aerts JMFG, Kastelein JJP, Hollak CEM, Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease. ATHEROSCLEROSIS 2009;204 (1):267-272 [PubMed]
All Publications
Research programmes

Prof. dr. C.E.M. Hollak (Natural history, pathophysiology and treatment of lysosomal storage disorders and regulatory science of orphan drugs)

Current research funding
  • Erasmus MC
  • Nederlandse Internisten Vereniging
  • Protalix Ltd.
  • Stichting Stofwisselkracht