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Results 1-10 of 12 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2004Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III AMuschol, N.; Storch, S.; Balhausen, D.; Beesley, C.; Westermann, J.; Gal, A.; Ullrich, K.; Hopwood, J.; Winchester, B.; Braulke, T.
2001Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfataseLitjens, T.; Hopwood, J.
2004Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapyYogalingam, G.; Guo, X.; Muller, V.; Brooks, D.; Clements, P.; Kakkis, E.; 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.
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.
2000Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defectsEsposito, S.; Balzano, N.; Daniele, A.; Villani, G.; Perkins, K.; Weber, B.; Hopwood, J.; Di Natale, P.
2003Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patientsMatte, U.; Yogalingam, G.; Brooks, D.; Leistner, S.; Schwartz, I.; Lima, L.; Norato, D.; Brum, J.; Beesley, C.; Winchester, B.; Giugliani, R.; Hopwood, J.
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.

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