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Results 21-30 of 81 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
2005
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum
Brooks, D.
;
Gibson, G.
;
Karageorgos, L.
;
Hein, L.
;
Robertson, E.
;
Hopwood, J.
2004
Cord-blood transplants from unrelated donors in patients with Hurler's Syndrome
Staba, S.
;
Escolar, M.
;
Poe, M.
;
Kim, Y.
;
Martin, P.
;
Szabolcs, P.
;
Allison-Thacker, J.
;
Wood, S.
;
Wenger, D.
;
Rubenstein, P.
;
Hopwood, J.
;
Krivit, W.
;
Kurtzberg, J.
2007
Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI
Auclair, D.
;
Hopwood, J.
;
Lemontt, J.
;
Chen, L.
;
Byers, S.
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.
2008
Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene
Garrido, E.
;
Cormand, B.
;
Hopwood, J.
;
Chabas, A.
;
Grinberg, D.
;
Vilageliu, L.
2002
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network
Bradford, T.
;
Litjens, T.
;
Parkinson, E.
;
Hopwood, J.
;
Brooks, D.
2003
Family 39 a-L-iduronidases and b-D-xylosidases react through similar glycosyl-enzyme intermediates: Identification of the human iduronidase nucleophile
Nieman, C.
;
Wong, A.
;
He, S.
;
Clarke, L.
;
Hopwood, J.
;
Withers, S.
2001
Conditional tissue-specific expression of the acid α-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy
Raben, N.
;
Lu, N.
;
Nagaraju, K.
;
Rivera, Y.
;
Lee, A.
;
Yan, B.
;
Byrne, B.
;
Meikle, P.
;
Umapathysivam, K.
;
Hopwood, J.
;
Plotz, P.
2001
Glycosidase active site mutations in human a-L-iduronidase
Brooks, D.
;
Fabrega, S.
;
Hein, L.
;
Parkinson, E.
;
Durand, P.
;
Yogalingam, G.
;
Matte, U.
;
Giugliani, R.
;
Dasvarma, A.
;
Eslahpazire, J.
;
Henrissat, B.
;
Mornon, J.
;
Hopwood, J.
;
Lehn, P.
Discover
Author
31
Meikle, P.
25
Brooks, D.
15
Fuller, M.
7
Harmatz, P.
7
Hein, L.
7
Muller, V.
7
Yogalingam, G.
6
Parkinson-Lawrence, E.
5
Crawley, A.
5
Dean, C.
.
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Subject
42
Animals
23
Recombinant Proteins
20
Cricetinae
17
CHO Cells
17
Female
17
Fibroblasts
16
Cells, Cultured
16
Mutation
16
N-Acetylgalactosamine-4-Sulfatase
15
Adult
.
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Date issued
1
2009
7
2008
5
2007
6
2006
15
2005
12
2004
10
2003
6
2002
10
2001
9
2000
.
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