Search


Current filters:


Start a new search
Add filters:

Use filters to refine the search results.


Results 1-10 of 30 (Search time: 0.002 seconds).
Item hits:
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.
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.
2004Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patientsParkinson, E.; Muller, V.; Hopwood, J.; Brooks, D.
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.