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PreviewIssue DateTitleAuthor(s)
1997Mutations among Italian mucopolysaccharidosis Type I patientsGatti, R.; Di Natale, P.; Villani, G.; Filocamo, M.; Muller, V.; Guo, X.H.; Nelson, P.; Scott, H.; Hopwood, J.
1995The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implicationsScott, H.; Bunge, S.; Gal, A.; Clarke, L.; Morris, C.; 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.
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.
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.
1998Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studiesBunge, S.; Clements, P.; Byers, S.; Kleijer, W.; Brooks, D.; Hopwood, J.
1998Molecular genetics of mucopolysaccharidosis type I - mutation analysis among the patients of the former Soviet UnionVoskoboeva, E.; Krasnopolskaya, X.; Mirenburg, T.; Weber, B.; Hopwood, J.

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