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Results 11-20 of 21 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
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.
1996
Correction of Sanfilippo a Skin Fibroblasts By Retroviral Vector-Mediated Gene Transfer
Bielicki, J.
;
Hopwood, J.
;
Anson, D.
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.
1997
Molecular defects in Sanfilippo syndrome type A
Blanch, L.
;
Weber, B.
;
Guo, X.H.
;
Scott, H.
;
Hopwood, J.
2004
Expression and functional characterization of human mutant sulfamidase in insect cells
Montfort, M.
;
Garrido, E.
;
Hopwood, J.
;
Grinberg, D.
;
Chabas, A.
;
Vilageliu, L.
1995
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome
Scott, H.
;
Blanch, L.
;
Guo, X.H.
;
Freeman, C.
;
Orsborn, A.
;
Baker, E.
;
Sutherland, G.
;
Morris, C.
;
Hopwood, J.
2004
Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice
Gliddon, B.
;
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.
1997
Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics
Jones, M.
;
Alroy, J.
;
Rutledge, J.
;
Taylor, J.
;
Alvord Jnr., E.
;
Toone, J.
;
Applegarth, D.
;
Hopwood, J.
;
Skutelsky, E.
;
Ianelli, C.
;
Thorley Lawson, D.
;
Mitchell Herpolsheimer, C.
;
Arias, A.
;
Sharp, P.
;
Evans, W.
;
Sillence, D.
;
Cavanagh, K.
Discover
Author
6
Weber, B.
4
Gliddon, B.
4
Guo, X.H.
4
Yogalingam, G.
3
Blanch, L.
3
Hemsley, K.
3
Kleijer, W.
3
Perkins, K.
2
Anson, D.
2
Bielicki, J.
.
next >
Subject
16
Humans
12
Animals
8
Mice
8
Mutation
7
CHO Cells
7
Cricetinae
7
Fibroblasts
6
Recombinant Proteins
5
Gene Frequency
5
Lysosomes
.
next >
Date issued
12
2000 - 2007
9
1995 - 1999