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Results 1-10 of 47 (Search time: 0.006 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.
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.
1997Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic markerMeikle, P.; Brooks, D.; Ravenscroft, E.; Yan, M.; Williams, R.; Jaunzems, A.; Chataway, T.; Karageorgos, L.; Davey, R.; Boulter, C.; Carlsson, S.; 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.
1995Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase proteinBrooks, D.; Robertson, D.; Bindloss, C.; Litjens, T.; Anson, D.; Peters, C.; Morris, C.; Hopwood, J.
1999Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sitesBradford, T.; Gething, M.; Davey, R.; Hopwood, J.; Brooks, D.
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.
2012Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouseFuller, M.; Duplock, S.; Turner, C.; Davey, P.; Brooks, D.; Hopwood, J.; Meikle, P.
2007N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samplesParkinson-Lawrence, E.; Muller, V.; Hopwood, J.; Brooks, D.