Adelaide Research & Scholarship: Search

Search

Search:
for

Current filters:

Start a new search

Add filters:

Results/Page | Sort items by In order Authors/record

Results 1-10 of 27 (Search time: 0.002 seconds).

previous
1
2
3
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1998	Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype	Yamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, M.; Orii, T.
	1998	Recombinant human sulphamidase: expression, amplification, purification and characterization	Bielicki, J.; Hopwood, J.; Melville, E.; Anson, D.
	1995	Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase	Bielicki, J.; Fuller, M.; Guo, X.H.; Morris, C.; Hopwood, J.; Anson, D.
	1997	Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)	Bunge, S.; Ince, H.; Steglich, C.; Kleijer, W.; Beck, M.; Zaremba, J.; van Diggelen, O.; Weber, B.; Hopwood, J.; Gal, A.
	2004	Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy	Karageorgos, L.; Harmatz, P.; Simon, J.; Pollard, A.; Clements, P.; Brooks, D.; Hopwood, J.
	2004	Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy	Yogalingam, G.; Guo, X.; Muller, V.; Brooks, D.; Clements, P.; Kakkis, E.; Hopwood, J.
	2003	Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome	Van 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.
	2005	Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease	Umapathysivam, K.; Hopwood, J.; Meikle, P.
	2008	Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease	Fuller, M.; Rozaklis, T.; Lovejoy, M.; Zarrinkalam, K.; Hopwood, J.; Meikle, P.
	2001	Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of a-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation	Keeling, K.; Brooks, D.; Hopwood, J.; Li, P.; Thompson, J.; Bedwell, D.