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PreviewIssue DateTitleAuthor(s)
1998Identification of a common mutation (R245h) in Sanfilippo A patients from the NetherlandsWeber, B.; Vandekamp, J.; Kleijer, W.; Guo, X.H.; Blanch, L.; van Diggelen, O.; Wevers, R.; Poorthuis, B.; Hopwood, J.
1997Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)Bunge, S.; Ince, H.; Steglich, C.; Kleijer, W.; Beck, M.; Zaremba, J.; van Diggelen, O.; Weber, B.; Hopwood, J.; Gal, A.
2001Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsYogalingam, G.; Hopwood, J.
2004Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III AMuschol, N.; Storch, S.; Balhausen, D.; Beesley, C.; Westermann, J.; Gal, A.; Ullrich, K.; Hopwood, J.; Winchester, B.; Braulke, T.
1999Expression and characterization of wild type and mutant recombinant human sulfamidase - Implications for Sanfilippo (mucopolysaccharidosis IIIA) syndromePerkins, K.; Byers, S.; Yogalingam, G.; Weber, B.; Hopwood, J.
1997Molecular defects in Sanfilippo syndrome type ABlanch, L.; Weber, B.; Guo, X.H.; Scott, H.; Hopwood, J.
2000Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defectsEsposito, S.; Balzano, N.; Daniele, A.; Villani, G.; Perkins, K.; Weber, B.; Hopwood, J.; Di Natale, P.
2004Expression and functional characterization of human mutant sulfamidase in insect cellsMontfort, M.; Garrido, E.; Hopwood, J.; Grinberg, D.; Chabas, A.; Vilageliu, L.
1999Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypesWeber, B.; Guo, X.H.; Kleijer, W.; van de Kamp, J.; Poorthuis, B.; Hopwood, J.
2001Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patientsPerkins, K.; Muller, V.; Weber, B.; Hopwood, J.