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Results 11-20 of 22 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1997Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme FunctionWeber, B.; Guo, X.H.; Wraith, J.; Cooper, A.; Kleijer, W.; Bunge, S.; Hopwood, J.
2005Prediction of neuropathology in mucopolysaccharidosis I patientsFuller, M.; Brooks, D.; Evangelista, M.; Hein, L.; Hopwood, J.; Meikle, P.
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.
2005Analysis of normal and mutant iduronate-2-sulphatase conformationParkinson-Lawrence, E.; Turner, C.; Hopwood, J.; Brooks, D.
2003Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometryRamsay, S.; Meikle, P.; Hopwood, J.
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.
2003Prevalence of mucopolysaccharidosis type VI mutations in Siamese catsCrawley, A.; Muntz, F.; Haskins, M.; Jones, B.; Hopwood, J.
1998Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activityYogalingam, G.; Hopwood, J.; Crawley, A.; Anson, D.
1998Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypesCrawley, A.; Yogalingam, G.; Muller, V.; Hopwood, J.
1998Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studiesBunge, S.; Clements, P.; Byers, S.; Kleijer, W.; Brooks, D.; Hopwood, J.