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Results 11-20 of 26 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
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.
2000Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant a-N-acetylglocosaminidase and relationship with Sanfilippo phenotype in an attenuated patientYogalingam, G.; Weber, B.; Meehan, J.; Rogers, J.; Hopwood, J.
2006GalsulfaseHopwood, J.; Bate, G.; Kirkpatrick, P.
2005Analysis of normal and mutant iduronate-2-sulphatase conformationParkinson-Lawrence, E.; Turner, C.; Hopwood, J.; Brooks, D.
1995Isolation and characterisation of a recombinant precursor form of lysosomal acid α-glucosidaseFuller, M.; Van der Ploeg, A.; Reuser, A.; Anson, D.; Hopwood, J.
1996Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndromeCrawley, A.; Brooks, D.; Muller, V.; Petersen, B.; Isaac, E.; Bielicki, J.; King, B.; Boulter, C.; Moore, A.; Fazzalari, N.; Anson, D.; Byers, S.; Hopwood, J.
2000Enzyme replacement therapy in a feline model of MPS VI: Modification of enzyme structure and dose frequencyByers, S.; Crawley, A.; Brumfield, L.; Nuttall, J.; Hopwood, J.
2008Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spotsTan, M.; Dean, C.; Hopwood, J.; Meikle, P.