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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.
1998Recombinant human sulphamidase: expression, amplification, purification and characterizationBielicki, J.; Hopwood, J.; Melville, E.; Anson, D.
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.
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.
1997Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme FunctionWeber, B.; Guo, X.H.; Wraith, J.; Cooper, A.; Kleijer, W.; Bunge, S.; Hopwood, J.
1996Structure and sequence of the human sulphamidase geneKarageorgos, L.; Guo, X.H.; Blanch, L.; Weber, B.; Anson, D.; Scott, H.; Hopwood, J.
1996Correction of Sanfilippo a Skin Fibroblasts By Retroviral Vector-Mediated Gene TransferBielicki, J.; Hopwood, J.; Anson, D.
1997Molecular defects in Sanfilippo syndrome type ABlanch, L.; Weber, B.; Guo, X.H.; Scott, H.; Hopwood, J.
1995Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeScott, H.; Blanch, L.; Guo, X.H.; Freeman, C.; Orsborn, A.; Baker, E.; Sutherland, G.; Morris, C.; Hopwood, J.
1997Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristicsJones, M.; Alroy, J.; Rutledge, J.; Taylor, J.; Alvord Jnr., E.; Toone, J.; Applegarth, D.; Hopwood, J.; Skutelsky, E.; Ianelli, C.; Thorley Lawson, D.; Mitchell Herpolsheimer, C.; Arias, A.; Sharp, P.; Evans, W.; Sillence, D.; Cavanagh, K.

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