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Results 1-10 of 14 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2001Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfataseLitjens, T.; Hopwood, J.
2004Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIHermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
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.
1999Expression and characterization of wild type and mutant recombinant human sulfamidase - Implications for Sanfilippo (mucopolysaccharidosis IIIA) syndromePerkins, K.; Byers, S.; Yogalingam, G.; Weber, B.; Hopwood, J.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2005Analysis of normal and mutant iduronate-2-sulphatase conformationParkinson-Lawrence, E.; Turner, C.; Hopwood, J.; Brooks, D.
2003Prevalence of mucopolysaccharidosis type VI mutations in Siamese catsCrawley, A.; Muntz, F.; Haskins, M.; Jones, B.; Hopwood, J.
2003Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotypeMaxwell, M.; Bjorkman, J.; Nguyen, T.; Sharp, P.; Finnie, J.; Paterson, C.; Tonks, I.; Paton, B.; Kay, G.; Crane, D.
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.