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PreviewIssue DateTitleAuthor(s)
2001Determination of acid a-glucosidase activity in blood spots as a diagnostic test for Pompe diseaseUmapathysivam, K.; Hopwood, J.; Meikle, P.
2001Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsYogalingam, G.; Hopwood, J.
2001Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfataseLitjens, T.; Hopwood, J.
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.
2001Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndromeBraunlin, E.; Rose, A.; Hopwood, J.; Candel, R.; Krivit, W.
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.
2001Purification and characterization of recombinant human lysosomal a-mannosidaseBerg, T.; King, B.; Meikle, P.; Nilssen, O.; Tollersrud, O.; Hopwood, J.