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Results 1-10 of 12 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2002Biochemical and molecular analysis of mucopolysaccharidoses in TurkeyEmre, S.; Terzioglu, M.; Coskun, T.; Tokatli, A.; Ozalp, I.; Muller, V.; 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.
1997Mutations among Italian mucopolysaccharidosis Type I patientsGatti, R.; Di Natale, P.; Villani, G.; Filocamo, M.; Muller, V.; Guo, X.H.; Nelson, P.; Scott, H.; 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.
2007N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samplesParkinson-Lawrence, E.; Muller, V.; Hopwood, J.; Brooks, D.
1999Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cellsYogalingam, G.; Muller, V.; Hopwood, J.; Anson, D.
2006Stop-codon read-through for patients affected by a lysosomal storage disorderBrooks, D.; Muller, V.; Hopwood, J.
1996Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndromeCrawley, A.; Brooks, D.; Muller, V.; Petersen, B.; Isaac, E.; Bielicki, J.; King, B.; Boulter, C.; Moore, A.; Fazzalari, N.; Anson, D.; Byers, S.; Hopwood, J.
1998Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypesCrawley, A.; Yogalingam, G.; Muller, V.; Hopwood, J.