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Results 11-20 of 21 (Search time: 0.001 seconds).
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PreviewIssue DateTitleAuthor(s)
2004Glycosaminoglycan degradation fragments in mucopolysaccharidosis IFuller, M.; Meikle, P.; Hopwood, J.
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.
2004Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseasesRamsay, S.; Maire, I.; Bindloss, C.; Fuller, M.; Whitfield, P.; Piraud, M.; Hopwood, J.; Meikle, P.
2004Expression and functional characterization of human mutant sulfamidase in insect cellsMontfort, M.; Garrido, E.; Hopwood, J.; Grinberg, D.; Chabas, A.; Vilageliu, L.
2004Monitoring dose response of enzyme replacement therapy in feline mucopolysaccharidosis type VI by tandem mass spectrometryCrawley, A.; Ramsay, S.; Byers, S.; Hopwood, J.; Meikle, P.
2004Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA miceGliddon, B.; Hopwood, J.
2004Caprine mucopolysaccharidosis IIID - Fetal and neonatal brain and liver glycosaminoglycan and morphological perturbationsJones, M.; Alroy, J.; Downs-Kelly, E.; Lucas, R.; Kraemer, S.; Cavanagh, K.; King, B.; Hopwood, J.
2004Disease-specific markers for the mucopolysaccharidosesFuller, M.; Rozaklis, T.; Ramsay, S.; Hopwood, J.; Meikle, P.
2004Immunoquantification of a-galactosidase: Evaluation for the diagnosis of Fabry DiseaseFuller, M.; Lovejoy, M.; Brooks, D.; Harkin, M.; Hopwood, J.; Meikle, P.
2004Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategyMeikle, P.; Ranieri, E.; Simonsen, H.; Rozaklis, T.; Ramsay, S.; Whitfield, P.; Fuller, M.; Christensen, E.; Skovby, F.; Hopwood, J.