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Results 1-10 of 13 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotypeYamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, M.; Orii, T.
1997Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)Bunge, S.; Ince, H.; Steglich, C.; Kleijer, W.; Beck, M.; Zaremba, J.; van Diggelen, O.; Weber, B.; Hopwood, J.; Gal, A.
2004Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapyKarageorgos, L.; Harmatz, P.; Simon, J.; Pollard, A.; Clements, P.; Brooks, D.; Hopwood, J.
2008Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher diseaseFuller, M.; Rozaklis, T.; Lovejoy, M.; Zarrinkalam, K.; Hopwood, J.; Meikle, P.
2004Glycosaminoglycan degradation fragments in mucopolysaccharidosis IFuller, M.; Meikle, P.; Hopwood, J.
1995In vivo delivery of human α-L-iduronidase in mice implanted with neo-organsSalvetti, A.; Moullier, P.; Cornet, V.; Brooks, D.; Hopwood, J.; Danos, O.; Heard, J.M.
2002In utero injection of a-L-iduronidase-carrying retrovirus in canine mucopolysaccharidosis type I: Infection of multiple tissues and neonatal gene expressionMeertens, L.; Zhao, Y.; Rosic-Kablar, S.; Li, L.; Chan, K.; Dobson, H.; Gartley, C.; Lutzko, C.; Hopwood, J.; Kohn, D.; Kruth, S.; Hough, M.; Dube, I.
2005Prediction of neuropathology in mucopolysaccharidosis I patientsFuller, M.; Brooks, D.; Evangelista, M.; Hein, L.; Hopwood, J.; Meikle, P.
2008Effect of lysosomal storage on bis(monoacylglycero)phosphateMeikle, P.; Duplock, S.; Blacklock, D.; Whitfield, P.; Macintosh, G.; Hopwood, J.; Fuller, M.
1997Lysosomal biogenesis in lysosomal storage disordersKarageorgos, L.; Isaac, E.; Brooks, D.; Ravenscroft, E.; Davey, R.; Hopwood, J.; Meikle, P.