1,721,493 research outputs found
The Smith-Lemli-Opitz syndrome. A multiple malformation syndrome due to a defect in cholesterol biosynthesis.
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26946_smitsy.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 28 juni 2005Promotores : Wevers, R.A., Smeitink, J.A.M.166 p
Glycomics by mass spectrometry for the diagnosis of congenital disorders of glycosylation (CDG)
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219330.pdf (Publisher’s version ) (Open Access)Radboud University, 19 juni 2020Promotores : Lefeber, D.J., Wevers, R.A. Co-promotor : Scherpenzeel, M. va
NMR Spectroscopy of Body Fluids: A Metabolomics approach to Inborn Errors of Metabolism.
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32101_nmr_spofb.pdf (Publisher’s version ) (Open Access)
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52124.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 20 september 2007Promotor : Wevers, R.A. Co-promotor : Willemsen, M.A.A.P.220 p
One-Carbon Metabolism and Neural Tube Defects. Case Open or Closed.
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71350.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 10 januari 2008Promotor : Wevers, R.A. Co-promotores : Blom, H.J., Heijer, M. den152 p
Prognostic biomarkers in ovarian carcinoma cyst fluid.
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77573.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 30 juni 2010Promotores : Massuger, L.F.A.G., Wevers, R.A., Sweep, C.G.J.176 p
Biochemical and clinical investigations for the diagnosis of Congenital Disorders of Glycosylation
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94198.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 06 juli 2012Promotor : Wevers, R.A. Co-promotores : Morava, E., Lefeber, D.J.192 p
Detection of respiratory infections in exhaled breath of cystic fibrosis patients
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165623.pdf (Publisher’s version ) (Open Access)Radboud University, 03 februari 2017Promotor : Wevers, R.A. Co-promotores : Cristescu, S.M., Harren, F.J.M., Merkus, P.J.F.M
O-glycosylation in health and disease
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49537.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 20 november 2006Promotores : Wevers, R.A., Jaeken, J., Matthijs, G.208 p
Amyloidogenic proteins in Alzheimer's and Parkinson's disease. Interaction with chaperones and inflammation
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90826.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 21 september 2011Promotores : Padberg, G.W.A.M., Wevers, R.A. Co-promotores : Verbeek, M.M., Waal, R.M.W. de176 p
The 3-methylglutaconic acidurias revisited
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106936.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 03 april 2013Promotores : Wevers, R.A., Smeitink, J.A.M., Morava, E. Co-promotor : Rodenburg, R.J.T
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