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

previous
1
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1998	Identification of a common mutation (R245h) in Sanfilippo A patients from the Netherlands	Weber, B.; Vandekamp, J.; Kleijer, W.; Guo, X.H.; Blanch, L.; van Diggelen, O.; Wevers, R.; Poorthuis, B.; Hopwood, J.
	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.
	1999	Expression and characterization of wild type and mutant recombinant human sulfamidase - Implications for Sanfilippo (mucopolysaccharidosis IIIA) syndrome	Perkins, K.; Byers, S.; Yogalingam, G.; Weber, B.; Hopwood, J.
	1997	Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme Function	Weber, B.; Guo, X.H.; Wraith, J.; Cooper, A.; Kleijer, W.; Bunge, S.; Hopwood, J.
	1996	Structure and sequence of the human sulphamidase gene	Karageorgos, L.; Guo, X.H.; Blanch, L.; Weber, B.; Anson, D.; Scott, H.; Hopwood, J.
	1997	Molecular defects in Sanfilippo syndrome type A	Blanch, L.; Weber, B.; Guo, X.H.; Scott, H.; Hopwood, J.
	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.
	1996	Cloning and Expression of the Gene Involved in Sanfilippo B Syndrome (Mucopolysaccharidosis III B)	Weber, B.; Blanch, L.; Clements, P.; Scott, H.; 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.