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Results 51-60 of 129 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(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.
1998Two-dimensional mapping and microsequencing of lysosomal proteins from human placentaChataway, T.; Whittle, A.; Lewis, M.; Bindloss, C.; Davey, R.; Moritz, R.; Simpson, R.; Hopwood, J.; Meikle, P.
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.
2001Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of a-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulationKeeling, K.; Brooks, D.; Hopwood, J.; Li, P.; Thompson, J.; Bedwell, D.
1997Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme FunctionWeber, B.; Guo, X.H.; Wraith, J.; Cooper, A.; Kleijer, W.; Bunge, S.; Hopwood, J.
2004Glycosaminoglycan degradation fragments in mucopolysaccharidosis IFuller, M.; Meikle, P.; Hopwood, J.

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