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Results 1-10 of 11 (Search time: 0.003 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.
1995
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein
Brooks, D.
;
Robertson, D.
;
Bindloss, C.
;
Litjens, T.
;
Anson, D.
;
Peters, C.
;
Morris, C.
;
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.
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.
2003
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients
Matte, U.
;
Yogalingam, G.
;
Brooks, D.
;
Leistner, S.
;
Schwartz, I.
;
Lima, L.
;
Norato, D.
;
Brum, J.
;
Beesley, C.
;
Winchester, B.
;
Giugliani, R.
;
Hopwood, J.
2005
Analysis of normal and mutant iduronate-2-sulphatase conformation
Parkinson-Lawrence, E.
;
Turner, C.
;
Hopwood, J.
;
Brooks, D.
1996
Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome
Crawley, A.
;
Brooks, D.
;
Muller, V.
;
Petersen, B.
;
Isaac, E.
;
Bielicki, J.
;
King, B.
;
Boulter, C.
;
Moore, A.
;
Fazzalari, N.
;
Anson, D.
;
Byers, S.
;
Hopwood, J.
2006
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples
Dean, C.
;
Bockmann, M.
;
Hopwood, J.
;
Brooks, D.
;
Meikle, P.
Discover
Author
11
Hopwood, J.
3
Litjens, T.
3
Yogalingam, G.
2
Anson, D.
2
Clements, P.
2
Giugliani, R.
2
Isaac, E.
2
Karageorgos, L.
2
Matte, U.
2
Meikle, P.
.
next >
Subject
11
Cricetinae
10
Humans
6
Recombinant Proteins
5
Mutation
5
Transfection
4
Cell Line
3
Amino Acid Substitution
3
Antibodies, Monoclonal
3
Base Sequence
3
Child, Preschool
.
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Date issued
8
2000 - 2006
3
1995 - 1999