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Results 11-20 of 52 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2004Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapyYogalingam, G.; Guo, X.; Muller, V.; Brooks, D.; Clements, P.; Kakkis, E.; Hopwood, J.
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.
1999Metabolism of trideuterated iso-lignoceric acid in rats in vivo and in human fibroblasts in culturePoulos, A.; Stockham, P.; Johnson, D.; Paton, B.; Beckman, K.; Singh, H.
2005Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe diseaseUmapathysivam, K.; Hopwood, J.; Meikle, P.
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.
1995Peroxisomal assembly defects : Clinical, pathological and biochemical findings in two patients belonging to a newly identified complementation groupPoulos, A.; Christodoulou, J.; Chow, C.; Goldblatt, J.; Paton, B.; Orii, T.; Suzuki, Y.; Shimozawa, N.
2009Identification and characterization of Ambroxol as an enzyme enhancement agent for Gaucher DiseaseMaegawa, G.; Tropak, M.; Buttner, J.; Rigat, B.; Fuller, M.; Pandit, D.; Tang, L.; Kornhaber, G.; Hamuro, Y.; Clarke, J.; Mahuran, D.
2004Purification and characterization of recombinant murine sulfamidaseGliddon, B.; Yogalingam, G.; Hopwood, J.
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.