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Results 1-10 of 33 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
1996
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients
Litjens, T.
;
Brooks, D.
;
Peters, C.
;
Gibson, G.
;
Hopwood, J.
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.
2007
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples
Parkinson-Lawrence, E.
;
Muller, V.
;
Hopwood, J.
;
Brooks, D.
2005
Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots
Hein, L.
;
Meikle, P.
;
Dean, C.
;
Bockmann, M.
;
Auclair, D.
;
Hopwood, J.
;
Brooks, D.
2007
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy
Karageorgos, L.
;
Brooks, D.
;
Harmatz, P.
;
Ketteridge, D.
;
Pollard, A.
;
Melville, E.
;
Parkinson-Lawrence, E.
;
Clements, P.
;
Hopwood, J.
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.
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.
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.
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
11
Meikle, P.
6
Parkinson-Lawrence, E.
5
Karageorgos, L.
4
Clements, P.
4
Fuller, M.
4
Hein, L.
4
Isaac, E.
4
Muller, V.
4
Turner, C.
3
Byers, S.
.
next >
Subject
20
Animals
12
Iduronidase
11
Mucopolysaccharidosis I
10
CHO Cells
10
Cricetinae
10
Lysosomes
9
Fibroblasts
9
Recombinant Proteins
8
Mutation
7
Antibodies, Monoclonal
.
next >
Date issued
25
2000 - 2007
8
1995 - 1999