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Results 1-10 of 17 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2002
Biochemical and molecular analysis of mucopolysaccharidoses in Turkey
Emre, S.
;
Terzioglu, M.
;
Coskun, T.
;
Tokatli, A.
;
Ozalp, I.
;
Muller, V.
;
Hopwood, J.
2001
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Yogalingam, G.
;
Hopwood, J.
2004
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A
Muschol, N.
;
Storch, S.
;
Balhausen, D.
;
Beesley, C.
;
Westermann, J.
;
Gal, A.
;
Ullrich, K.
;
Hopwood, J.
;
Winchester, B.
;
Braulke, T.
2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
Litjens, T.
;
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
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.
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.
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
7
Brooks, D.
5
Yogalingam, G.
3
Muller, V.
3
Weber, B.
2
Beesley, C.
2
Chabas, A.
2
Clements, P.
2
Garrido, E.
2
Giugliani, R.
2
Grinberg, D.
.
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Subject
16
Humans
12
Animals
7
CHO Cells
7
Cricetinae
6
Phenotype
5
DNA Mutational Analysis
5
Mucopolysaccharidosis III
5
Polymorphism, Genetic
5
Recombinant Proteins
4
Blotting, Western
.
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2008
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2004
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2003
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2002
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2001
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2000