1. Adelaide Research & Scholarship

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Results 1-10 of 129 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrowFairbairn, L.; Lashford, L.; Spooncer, E.; McDermott, R.; Lebens, G.; Arrand, J.; Arrand, J.; Bellantuono, I.; Holt, R.; Hatton, C.; Cooper, A.; Besley, G.; Wraith, J.; Anson, D.; Hopwood, J.; Dexter, T.
1998Coexistence of Gaucher-Disease Type 1 and Joubert-SyndromeVan Royen-Kerkhof, A.; Pollthe, B.; Kleijer, W.; van Diggelen, O.; Aerts, J.; Hopwood, J.; Beemer, F.
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.
2002Biochemical and molecular analysis of mucopolysaccharidoses in TurkeyEmre, S.; Terzioglu, M.; Coskun, T.; Tokatli, A.; Ozalp, I.; Muller, V.; Hopwood, J.
1996Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndromeIsbrandt, D.; Hopwood, J.; von Figura, K.; Peters, C.
2000Determination of acid a-glucosidase protein: evaluation as a screening marker for pompe disease and other lysosomal storage disordersUmapathysivam, K.; Whittle, A.; Ranieri, E.; Bindloss, C.; Ravenscroft, E.; Van Diggelen, O.; Hopwood, J.; Meikle, P.
2003Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout miceRaben, N.; Nagaraju, K.; Lee, A.; Lu, N.; Rivera, Y.; Jatkar, T.; Hopwood, J.; Plotz, P.
2000Saposins A,B,C, and D in plasma of patients with lysosomal storage disordersChang, M.; Bindloss, C.; Grabowski, G.; Qi, X.; Winchester, B.; Hopwood, J.; Meikle, P.
2001Determination of acid a-glucosidase activity in blood spots as a diagnostic test for Pompe diseaseUmapathysivam, K.; Hopwood, J.; Meikle, P.
1998Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disordersHua, C.; Hopwood, J.; Carlsson, S.; Harris, R.; Meikle, P.

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