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Results 1-10 of 33 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsLitjens, T.; Brooks, D.; Peters, C.; Gibson, G.; Hopwood, J.
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.
2007N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samplesParkinson-Lawrence, E.; Muller, V.; Hopwood, J.; Brooks, D.
2005Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spotsHein, L.; Meikle, P.; Dean, C.; Bockmann, M.; Auclair, D.; Hopwood, J.; Brooks, D.
2007Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapyKarageorgos, L.; Brooks, D.; Harmatz, P.; Ketteridge, D.; Pollard, A.; Melville, E.; Parkinson-Lawrence, E.; Clements, P.; Hopwood, J.
2005An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrumBrooks, D.; Gibson, G.; Karageorgos, L.; Hein, L.; Robertson, E.; Hopwood, J.
2002Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar networkBradford, T.; Litjens, T.; Parkinson, E.; Hopwood, J.; Brooks, D.
2001Glycosidase active site mutations in human a-L-iduronidaseBrooks, D.; Fabrega, S.; Hein, L.; Parkinson, E.; Durand, P.; Yogalingam, G.; Matte, U.; Giugliani, R.; Dasvarma, A.; Eslahpazire, J.; Henrissat, B.; Mornon, J.; Hopwood, J.; Lehn, P.
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.