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Results 31-40 of 71 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
1996Feline mucopolysaccharidosis type VI - characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the diseaseYogalingam, G.; Litjens, T.; Bielicki, J.; Crawley, A.; Muller, V.; Anson, D.; Hopwood, J.
1995Activation of mitogen- activated protein kinase by arachidonic acid in rat liver epithelial WB cells by a protein kinase C-dependent mechanismHii, C.; Ferrante, A.; Edwards, Y.; Huang, Z.; Hartfield, P.; Rathjen, D.; Poulos, A.; Murray, A.
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.
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.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
2001Conditional tissue-specific expression of the acid α-glucosidase (GAA) gene in the GAA knockout mice: implications for therapyRaben, N.; Lu, N.; Nagaraju, K.; Rivera, Y.; Lee, A.; Yan, B.; Byrne, B.; Meikle, P.; Umapathysivam, K.; Hopwood, J.; Plotz, P.
1997FMR2 expression in families with FRAXE mental retardationGecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.
2005Poststorage leuko-depleted plasma inhibits T-cell proliferation and Th1 response in vitro: Characterization of TGF b-1 as an important immunomodulatory component in stored bloodHodge, G.; Hodge, S.; Nairn, J.; Tippett, M.; Holmes, M.; Reynolds, P.
2004Glycosaminoglycan degradation fragments in mucopolysaccharidosis IFuller, M.; Meikle, P.; Hopwood, J.