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Results 1-10 of 12 (Search time: 0.006 seconds).
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PreviewIssue DateTitleAuthor(s)
2008Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B geneGarrido, E.; Cormand, B.; Hopwood, J.; Chabas, A.; Grinberg, D.; Vilageliu, L.
2008Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Yu, Z.; Swiedler, S.; Decker, C.
2008Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spotsTan, M.; Dean, C.; Hopwood, J.; Meikle, P.
2008Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher diseaseFuller, M.; Rozaklis, T.; Lovejoy, M.; Zarrinkalam, K.; Hopwood, J.; Meikle, P.
2008Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA miceHemsley, K.; Beard, H.; King, B.; Hopwood, J.
2008Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA miceLau, A.; Crawley, A.; Hopwood, J.; Hemsley, K.
2008Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA miceSutherland, L.; Hemsley, K.; Hopwood, J.
2008Behavioural characterisation of the alpha-mannosidosis guinea pigRobinson, A.; Crawley, A.; Auclair, D.; Weston, P.; Hirte, C.; Hemsley, K.; Hopwood, J.
2008Plasma lipids are altered in Gaucher disease: Biochemical markers to evaluate therapeutic interventionMeikle, P.; Whitfield, P.; Rozaklis, T.; Blacklock, D.; Duplock, S.; Elstein, D.; Zimran, A.; Mengel, E.; Cannell, P.; Hopwood, J.; Fuller, M.
2008Effect of lysosomal storage on bis(monoacylglycero)phosphateMeikle, P.; Duplock, S.; Blacklock, D.; Whitfield, P.; Macintosh, G.; Hopwood, J.; Fuller, M.