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PreviewIssue DateTitleAuthor(s)
2007Mutational analysis of 105 mucopolysaccharidosis type VI patientsKarageorgos, L.; Brooks, D.; Pollard, A.; Melville, E.; Hein, L.; Clements, P.; Ketteridge, D.; Swiedler, S.; Beck, M.; Giugliani, R.; Harmatz, P.; Wraith, J.; Guffon, N.; Teles, E.; Miranda, C.; Hopwood, J.
2003The a-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentationHein, L.; Hopwood, J.; Clements, P.; 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.
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.
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.
2004a-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patientsHein, L.; Bawden, M.; Muller, V.; Sillence, D.; Hopwood, J.; Brooks, D.
2005Prediction of neuropathology in mucopolysaccharidosis I patientsFuller, M.; Brooks, D.; Evangelista, M.; Hein, L.; Hopwood, J.; Meikle, P.
2007Secondary sphingolipid accumulation in a macrophage model of Gaucher diseaseHein, L.; Meikle, P.; Hopwood, J.; Fuller, M.
2008Lipid composition of microdomains is altered in a cell model of Gaucher diseaseHein, L.; Duplock, S.; Hopwood, J.; Fuller, M.
2006Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: Enzyme dose and intervalAuclair, D.; Hein, L.; Hopwood, J.; Byers, S.