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Results: 4

Authors: Moraitou, M van Weely, S Verhoek, M Aerts, J Dimitriou, E Michelakakis, H
Citation: M. Moraitou et al., The facile detection of 1505G -> A in Gaucher patients with different phenotypes, BBA-MOL BAS, 1536(2-3), 2001, pp. 97-102

Authors: Cox, T Lachmann, R Hollak, C Aerts, J van Weely, S Hrebicek, M Platt, F Butters, T Dwek, R Moyses, C Gow, I Elstein, D Zimran, A
Citation: T. Cox et al., Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis, LANCET, 355(9214), 2000, pp. 1481-1485

Authors: Poorthuis, BJHM Wevers, RA Kleijer, WJ Groener, JEM de Jong, JGN van Weely, S Niezen-Koning, KE van Diggelen, OP
Citation: Bjhm. Poorthuis et al., The frequency of lysosomal storage diseases in The Netherlands, HUM GENET, 105(1-2), 1999, pp. 151-156

Authors: vom Dahl, S Harzer, K Rolfs, A Albrecht, B Niederau, C Vogt, C van Weely, S Aerts, J Muller, G Haussinger, D
Citation: S. Vom Dahl et al., Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase-1 exon 8 splice junction mutation, J HEPATOL, 31(4), 1999, pp. 741-746
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