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Results 11-20 of 29 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2015Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trialFerla, R.; Claudiani, P.; Savarese, M.; Kozarsky, K.; Parini, R.; Scarpa, M.; Donati, M.; Sorge, G.; Hopwood, J.; Parenti, G.; Fecarotta, S.; Nigro, V.; Sivri, H.; Van der Ploeg, A.; Andria, G.; Brunetti-Pierri, N.; Auricchio, A.
2007Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapyKarageorgos, L.; Brooks, D.; Harmatz, P.; Ketteridge, D.; Pollard, A.; Melville, E.; Parkinson-Lawrence, E.; Clements, P.; Hopwood, J.
1999Expression and characterization of wild type and mutant recombinant human sulfamidase - Implications for Sanfilippo (mucopolysaccharidosis IIIA) syndromePerkins, K.; Byers, S.; Yogalingam, G.; Weber, B.; 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.
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.
1997Molecular defects in Sanfilippo syndrome type ABlanch, L.; Weber, B.; Guo, X.H.; Scott, H.; Hopwood, J.
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.