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Results 1-10 of 21 (Search time: 0.003 seconds).
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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.
1998
Recombinant human sulphamidase: expression, amplification, purification and characterization
Bielicki, J.
;
Hopwood, J.
;
Melville, E.
;
Anson, D.
1997
Expression, Purification and Characterization of Recombinant Caprine N-Acetylglucosamine-6-Sulphatase
Litjens, T.
;
Bielicki, J.
;
Anson, D.
;
Friderici, K.
;
Jones, M.
;
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.
2001
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Yogalingam, G.
;
Hopwood, J.
2004
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A
Muschol, N.
;
Storch, S.
;
Balhausen, D.
;
Beesley, C.
;
Westermann, J.
;
Gal, A.
;
Ullrich, K.
;
Hopwood, J.
;
Winchester, B.
;
Braulke, T.
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.
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.
2004
In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA
Lau, A.
;
Hemsley, K.
;
Meedeniya, A.
;
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.
Discover
Author
10
Weber, B.
5
Guo, X.H.
4
Blanch, L.
4
Kleijer, W.
4
Perkins, K.
4
Yogalingam, G.
3
Scott, H.
2
Anson, D.
2
Bielicki, J.
2
Bunge, S.
.
next >
Subject
16
Hydrolases
11
Animals
10
Mutation
7
CHO Cells
7
Cricetinae
6
Fibroblasts
6
Phenotype
6
Recombinant Proteins
5
Cells, Cultured
5
Gene Expression
.
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Date issued
10
2000 - 2007
11
1995 - 1999