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Results 21-29 of 29 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2004Expression and functional characterization of human mutant sulfamidase in insect cellsMontfort, M.; Garrido, E.; Hopwood, J.; Grinberg, D.; Chabas, A.; Vilageliu, L.
2005Analysis of normal and mutant iduronate-2-sulphatase conformationParkinson-Lawrence, E.; Turner, C.; Hopwood, J.; Brooks, D.
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.
2011Screening patients referred to a metabolic clinic for lysosomal storage disordersFuller, M.; Tucker, J.; Lang, D.; Dean, C.; Fietz, M.; Meikle, P.; Hopwood, J.
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.
2001Expression and characterization of human recombinant and a-N-actylglucosaminidaseWeber, B.; Hopwood, J.; Yogalingam, G.
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.
1998Molecular genetics of mucopolysaccharidosis type I - mutation analysis among the patients of the former Soviet UnionVoskoboeva, E.; Krasnopolskaya, X.; Mirenburg, T.; Weber, B.; Hopwood, J.