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Results 1-10 of 15 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
1998Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristicsJones, M.; Alroy, J.; Boyer, P.; Cavanagh, K.; Johnson, K.; Gage, D.; Vorro, J.; Render, J.; Common, R.; Leedle, R.; Lowrie, C.; Sharp, P.; Liour, S.S.; Levene, B.; Hoard, H.; Lucas, R.; Hopwood, J.
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.
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.
1998Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotypeYamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, M.; Orii, T.
1998Recombinant human sulphamidase: expression, amplification, purification and characterizationBielicki, J.; Hopwood, J.; Melville, E.; Anson, D.
1998Development of a two-dimensional gel electrophoresis database of human lysosomal proteinsChataway, T.; Whittle, A.; Lewis, M.; Bindloss, C.; Moritz, R.; Simpson, R.; Hopwood, J.; Meikle, P.
1998Two-dimensional mapping and microsequencing of lysosomal proteins from human placentaChataway, T.; Whittle, A.; Lewis, M.; Bindloss, C.; Davey, R.; Moritz, R.; Simpson, R.; Hopwood, J.; Meikle, P.
1998Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activityYogalingam, G.; Hopwood, J.; Crawley, A.; Anson, D.
1998Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypesCrawley, A.; Yogalingam, G.; Muller, V.; Hopwood, J.