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PreviewIssue DateTitleAuthor(s)
1998Identification of a common mutation (R245h) in Sanfilippo A patients from the NetherlandsWeber, B.; Vandekamp, J.; Kleijer, W.; Guo, X.H.; Blanch, L.; van Diggelen, O.; Wevers, R.; Poorthuis, B.; Hopwood, J.
2015Butanolysis derivatization: improved sensitivity in LC-MS/MS quantitation of heparan sulfate in urine from mucopolysaccharidosis patientsTrim, P.; Hopwood, J.; Snel, M.
2005Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Swiedler, S.; Beck, M.; Bajbouj, M.; Giugliani, R.; Schwartz, I.; Harmatz, P.; Wraith, J.; Roberts, J.; Ketteridge, D.; Hopwood, J.; Guffon, N.; Miranda, C.; Teles, E.; Berger, K.; Piscia-Nichols, C.
2008Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Yu, Z.; Swiedler, S.; Decker, C.
2002Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: Implications for the prediction of disease severityWhitfield, P.; Nelson, P.; Sharp, P.; Bindloss, C.; Dean, C.; Ravenscroft, E.; Fong, B.; Fietz, M.; Hopwood, J.; Meikle, P.
1997Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristicsJones, M.; Alroy, J.; Rutledge, J.; Taylor, J.; Alvord Jnr., E.; Toone, J.; Applegarth, D.; Hopwood, J.; Skutelsky, E.; Ianelli, C.; Thorley Lawson, D.; Mitchell Herpolsheimer, C.; Arias, A.; Sharp, P.; Evans, W.; Sillence, D.; Cavanagh, K.

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