Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 1-10 of 21 (Search time: 0.004 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2000Carbohydrate-deficient glycoprotein syndrome: Beyond the screenFletcher, J.; Matthijs, G.; Jaeken, J.; Van Schaftingen, E.; Nelson, P.
1996Clinicopathologic features of congenital aneurysms of the great vesselsAdes, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D.
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.
1997Identification 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.
2004Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapyKarageorgos, L.; Harmatz, P.; Simon, J.; Pollard, A.; Clements, P.; Brooks, D.; Hopwood, J.
1999Metabolism of trideuterated iso-lignoceric acid in rats in vivo and in human fibroblasts in culturePoulos, A.; Stockham, P.; Johnson, D.; Paton, B.; Beckman, K.; Singh, H.
2008Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher diseaseFuller, M.; Rozaklis, T.; Lovejoy, M.; Zarrinkalam, K.; Hopwood, J.; Meikle, P.
2009Identification and characterization of Ambroxol as an enzyme enhancement agent for Gaucher DiseaseMaegawa, G.; Tropak, M.; Buttner, J.; Rigat, B.; Fuller, M.; Pandit, D.; Tang, L.; Kornhaber, G.; Hamuro, Y.; Clarke, J.; Mahuran, D.
2004Glycosaminoglycan degradation fragments in mucopolysaccharidosis IFuller, M.; Meikle, P.; Hopwood, J.
1995In vivo delivery of human α-L-iduronidase in mice implanted with neo-organsSalvetti, A.; Moullier, P.; Cornet, V.; Brooks, D.; Hopwood, J.; Danos, O.; Heard, J.M.