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Results 21-30 of 81 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2005An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrumBrooks, D.; Gibson, G.; Karageorgos, L.; Hein, L.; Robertson, E.; Hopwood, J.
2004Cord-blood transplants from unrelated donors in patients with Hurler's SyndromeStaba, S.; Escolar, M.; Poe, M.; Kim, Y.; Martin, P.; Szabolcs, P.; Allison-Thacker, J.; Wood, S.; Wenger, D.; Rubenstein, P.; Hopwood, J.; Krivit, W.; Kurtzberg, J.
2007Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VIAuclair, D.; Hopwood, J.; Lemontt, J.; Chen, L.; Byers, S.
2004In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIALau, A.; Hemsley, K.; Meedeniya, A.; Hopwood, J.
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.
2002Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar networkBradford, T.; Litjens, T.; Parkinson, E.; Hopwood, J.; Brooks, D.
2003Family 39 a-L-iduronidases and b-D-xylosidases react through similar glycosyl-enzyme intermediates: Identification of the human iduronidase nucleophileNieman, C.; Wong, A.; He, S.; Clarke, L.; Hopwood, J.; Withers, S.
2001Conditional tissue-specific expression of the acid α-glucosidase (GAA) gene in the GAA knockout mice: implications for therapyRaben, N.; Lu, N.; Nagaraju, K.; Rivera, Y.; Lee, A.; Yan, B.; Byrne, B.; Meikle, P.; Umapathysivam, K.; Hopwood, J.; Plotz, P.
2001Glycosidase active site mutations in human a-L-iduronidaseBrooks, D.; Fabrega, S.; Hein, L.; Parkinson, E.; Durand, P.; Yogalingam, G.; Matte, U.; Giugliani, R.; Dasvarma, A.; Eslahpazire, J.; Henrissat, B.; Mornon, J.; Hopwood, J.; Lehn, P.