Adelaide Research & Scholarship: Search

Search

Results 1-9 of 9 (Search time: 0.002 seconds).

previous
1
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1996	Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow	Fairbairn, L.; Lashford, L.; Spooncer, E.; McDermott, R.; Lebens, G.; Arrand, J.; Arrand, J.; Bellantuono, I.; Holt, R.; Hatton, C.; Cooper, A.; Besley, G.; Wraith, J.; Anson, D.; Hopwood, J.; Dexter, T.
	1996	Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients	Litjens, T.; Brooks, D.; Peters, C.; Gibson, G.; Hopwood, J.
	1996	Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome	Isbrandt, D.; Hopwood, J.; von Figura, K.; Peters, C.
	1995	Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein	Brooks, D.; Robertson, D.; Bindloss, C.; Litjens, T.; Anson, D.; Peters, C.; Morris, C.; Hopwood, J.
	1996	Feline mucopolysaccharidosis type VI - characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease	Yogalingam, G.; Litjens, T.; Bielicki, J.; Crawley, A.; Muller, V.; Anson, D.; Hopwood, J.
	2001	Glycosidase active site mutations in human a-L-iduronidase	Brooks, D.; Fabrega, S.; Hein, L.; Parkinson, E.; Durand, P.; Yogalingam, G.; Matte, U.; Giugliani, R.; Dasvarma, A.; Eslahpazire, J.; Henrissat, B.; Mornon, J.; Hopwood, J.; Lehn, P.
	2001	A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant	Bhattacharyya, R.; Gliddon, B.; Beccari, T.; Hopwood, J.; Stanley, P.
	1999	Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes	Weber, B.; Guo, X.H.; Kleijer, W.; van de Kamp, J.; Poorthuis, B.; Hopwood, J.
	1998	Molecular genetics of mucopolysaccharidosis type I - mutation analysis among the patients of the former Soviet Union	Voskoboeva, E.; Krasnopolskaya, X.; Mirenburg, T.; Weber, B.; Hopwood, J.