Current filters:

Start a new search
Add filters:

Use filters to refine the search results.

Results 1-10 of 14 (Search time: 0.003 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2002Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and BEmre, S.; Terzioglu, M.; Tokatli, A.; Coskun, T.; Ozalp, I.; Weber, 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.
2001Expression and characterization of human recombinant and a-N-actylglucosaminidaseWeber, B.; Hopwood, J.; Yogalingam, G.
2000Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant a-N-acetylglocosaminidase and relationship with Sanfilippo phenotype in an attenuated patientYogalingam, G.; Weber, B.; Meehan, J.; Rogers, J.; 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.
1996Structure and sequence of the human sulphamidase geneKarageorgos, L.; Guo, X.; Blanch, L.; Weber, B.; Anson, D.; Scott, H.; Hopwood, J.
1997Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme FunctionWeber, B.; Guo, X.; Wraith, J.; Cooper, A.; Kleijer, W.; Bunge, S.; Hopwood, J.
1997Molecular defects in Sanfilippo syndrome type ABlanch, L.; Weber, B.; Guo, X.; Scott, H.; Hopwood, J.
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.
1999Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypesWeber, B.; Guo, X.; Kleijer, W.; van de Kamp, J.; Poorthuis, B.; Hopwood, J.