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Issue Date
Title
Author(s)
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.
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.
2007
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
Fraldi, A.
;
Hemsley, K.
;
Crawley, A.
;
Lombardi, A.
;
Lau, A.
;
Sutherland, L.
;
Auricchio, A.
;
Ballabio, A.
;
Hopwood, J.
2000
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects
Esposito, S.
;
Balzano, N.
;
Daniele, A.
;
Villani, G.
;
Perkins, K.
;
Weber, B.
;
Hopwood, J.
;
Di Natale, P.
2004
Expression and functional characterization of human mutant sulfamidase in insect cells
Montfort, M.
;
Garrido, E.
;
Hopwood, J.
;
Grinberg, D.
;
Chabas, A.
;
Vilageliu, L.
2000
Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant a-N-acetylglocosaminidase and relationship with Sanfilippo phenotype in an attenuated patient
Yogalingam, G.
;
Weber, B.
;
Meehan, J.
;
Rogers, J.
;
Hopwood, J.
2001
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
Perkins, K.
;
Muller, V.
;
Weber, B.
;
Hopwood, J.
2002
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs
Yogalingam, G.
;
Pollard, T.
;
Gliddon, B.
;
Jolly, R.
;
Hopwood, J.
Discover
Author
3
Perkins, K.
3
Weber, B.
3
Yogalingam, G.
2
Hemsley, K.
2
Lau, A.
2
Muller, V.
1
Auricchio, A.
1
Balhausen, D.
1
Ballabio, A.
1
Balzano, N.
.
next >
Subject
8
Hydrolases
7
Animals
5
Mutation
3
Cells, Cultured
3
CHO Cells
3
Cricetinae
3
Fibroblasts
3
Mice
3
Phenotype
3
Recombinant Proteins
.
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Date issued
1
2007
3
2004
1
2003
1
2002
2
2001
2
2000