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Results 11-20 of 221 (Search time: 0.009 seconds).
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PreviewIssue DateTitleAuthor(s)
2002Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and BEmre, S.; Terzioglu, M.; Tokatli, A.; Coskun, T.; Ozalp, I.; Weber, B.; Hopwood, J.
2004Cord-blood transplants from unrelated donors in patients with Hurler's SyndromeStaba, S.; Escolar, M.; Poe, M.; Kim, Y.; Martin, P.; Szabolcs, P.; Allison-Thacker, J.; Wood, S.; Wenger, D.; Rubenstein, P.; Hopwood, J.; Krivit, W.; Kurtzberg, J.
2010Functional analysis of the HGSNAT gene in patients with Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)Fedele, A.; Hopwood, J.
2013Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyBraunlin, E.; Rosenfeld, H.; Kampmann, C.; Johnson, J.; Beck, M.; Giugliani, R.; Guffon, N.; Ketteridge, D.; Miranda, C.; Scarpa, M.; Schwartz, I.; Teles, E.; Wraith, J.; Barrios, P.; Dias da Silva, E.; Kurio, G.; Richardson, M.; Gildengorin, G.; Hopwood, J.; Imperiale, M.; et al.
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.
2003Family 39 a-L-iduronidases and b-D-xylosidases react through similar glycosyl-enzyme intermediates: Identification of the human iduronidase nucleophileNieman, C.; Wong, A.; He, S.; Clarke, L.; Hopwood, J.; Withers, S.
2005Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Swiedler, S.; Beck, M.; Bajbouj, M.; Giugliani, R.; Schwartz, I.; Harmatz, P.; Wraith, J.; Roberts, J.; Ketteridge, D.; Hopwood, J.; Guffon, N.; Miranda, C.; Teles, E.; Berger, K.; Piscia-Nichols, C.
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.
2005Replacing acid ∝-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibersRaben, N.; Fukuda, T.; Gilbert, A.; de Jong, D.; Thurberg, B.; Mattaliano, R.; Meikle, P.; Hopwood, J.; Nagashima, K.; Nagaraju, K.; Plotz, P.
2004Caprine mucopolysaccharidosis IIID - Fetal and neonatal brain and liver glycosaminoglycan and morphological perturbationsJones, M.; Alroy, J.; Downs-Kelly, E.; Lucas, R.; Kraemer, S.; Cavanagh, K.; King, B.; Hopwood, J.