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PreviewIssue DateTitleAuthor(s)
2001Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implicationsYogalingam, G.; Hopwood, J.
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.
2003Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndromeVan Hove, J.; Wevers, R.; Van Cleemput, J.; Moerman, P.; Sciot, R.; Matthijs, G.; Schollen, E.; de Jonge, J.; Carey, W.; Muller, V.; Nicholls, C.; Perkins, K.; Hopwood, J.
2004In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIALau, A.; Hemsley, K.; Meedeniya, A.; Hopwood, J.
2007Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genesFraldi, A.; Hemsley, K.; Crawley, A.; Lombardi, A.; Lau, A.; Sutherland, L.; Auricchio, A.; Ballabio, A.; 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.
2004Expression and functional characterization of human mutant sulfamidase in insect cellsMontfort, M.; Garrido, E.; Hopwood, J.; Grinberg, D.; Chabas, A.; Vilageliu, L.
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.
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.
2002Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogsYogalingam, G.; Pollard, T.; Gliddon, B.; Jolly, R.; Hopwood, J.