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Issue Date
Title
Author(s)
2004
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy
Karageorgos, L.
;
Harmatz, P.
;
Simon, J.
;
Pollard, A.
;
Clements, P.
;
Brooks, D.
;
Hopwood, J.
2004
Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
Yogalingam, G.
;
Guo, X.
;
Muller, V.
;
Brooks, D.
;
Clements, P.
;
Kakkis, E.
;
Hopwood, J.
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
Metabolism of trideuterated iso-lignoceric acid in rats in vivo and in human fibroblasts in culture
Poulos, A.
;
Stockham, P.
;
Johnson, D.
;
Paton, B.
;
Beckman, K.
;
Singh, H.
2005
Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease
Umapathysivam, K.
;
Hopwood, J.
;
Meikle, P.
2008
Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease
Fuller, M.
;
Rozaklis, T.
;
Lovejoy, M.
;
Zarrinkalam, K.
;
Hopwood, J.
;
Meikle, P.
1995
Peroxisomal assembly defects : Clinical, pathological and biochemical findings in two patients belonging to a newly identified complementation group
Poulos, A.
;
Christodoulou, J.
;
Chow, C.
;
Goldblatt, J.
;
Paton, B.
;
Orii, T.
;
Suzuki, Y.
;
Shimozawa, N.
2009
Identification and characterization of Ambroxol as an enzyme enhancement agent for Gaucher Disease
Maegawa, G.
;
Tropak, M.
;
Buttner, J.
;
Rigat, B.
;
Fuller, M.
;
Pandit, D.
;
Tang, L.
;
Kornhaber, G.
;
Hamuro, Y.
;
Clarke, J.
;
Mahuran, D.
2004
Purification and characterization of recombinant murine sulfamidase
Gliddon, B.
;
Yogalingam, G.
;
Hopwood, J.
2001
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of a-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation
Keeling, K.
;
Brooks, D.
;
Hopwood, J.
;
Li, P.
;
Thompson, J.
;
Bedwell, D.
Discover
Author
31
Hopwood, J.
10
Meikle, P.
9
Brooks, D.
9
Fuller, M.
7
Anson, D.
6
Yogalingam, G.
5
Muller, V.
4
Bielicki, J.
4
Paton, B.
4
Weber, B.
.
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Subject
47
Humans
25
Animals
21
Cells, Cultured
15
Mutation
15
Skin
14
Female
14
Male
13
Cricetinae
12
Cell Line
11
CHO Cells
.
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Date issued
6
2010 - 2017
28
2000 - 2009
18
1995 - 1999