Search


Current filters:


Start a new search
Add filters:

Use filters to refine the search results.


Results 11-20 of 81 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2001Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfataseLitjens, T.; 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.
2003Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndromeVan Hove, J.; Wevers, R.; Van Cleemput, J.; Moerman, P.; Sciot, R.; Matthijs, G.; Schollen, E.; de Jonge, J.; Carey, W.; Muller, V.; Nicholls, C.; Perkins, K.; Hopwood, J.
2000Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mappingCostanzi, E.; Beccari, T.; Stinchi, S.; Bibi, L.; Hopwood, J.; Orlacchio, A.
2005Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharidesRamsay, S.; Meikle, P.; Hopwood, J.; Clements, P.
2008Plasma lipids are altered in Gaucher disease: Biochemical markers to evaluate therapeutic interventionMeikle, P.; Whitfield, P.; Rozaklis, T.; Blacklock, D.; Duplock, S.; Elstein, D.; Zimran, A.; Mengel, E.; Cannell, P.; Hopwood, J.; Fuller, M.
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.
2005Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe diseaseUmapathysivam, K.; Hopwood, J.; Meikle, P.
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.