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Results 11-20 of 22 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1997
Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme Function
Weber, B.
;
Guo, X.H.
;
Wraith, J.
;
Cooper, A.
;
Kleijer, W.
;
Bunge, S.
;
Hopwood, J.
2005
Prediction of neuropathology in mucopolysaccharidosis I patients
Fuller, M.
;
Brooks, D.
;
Evangelista, M.
;
Hein, L.
;
Hopwood, J.
;
Meikle, P.
2000
Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant a-N-acetylglocosaminidase and relationship with Sanfilippo phenotype in an attenuated patient
Yogalingam, G.
;
Weber, B.
;
Meehan, J.
;
Rogers, J.
;
Hopwood, J.
2005
Analysis of normal and mutant iduronate-2-sulphatase conformation
Parkinson-Lawrence, E.
;
Turner, C.
;
Hopwood, J.
;
Brooks, D.
2003
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry
Ramsay, S.
;
Meikle, P.
;
Hopwood, J.
1999
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
Weber, B.
;
Guo, X.H.
;
Kleijer, W.
;
van de Kamp, J.
;
Poorthuis, B.
;
Hopwood, J.
2003
Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats
Crawley, A.
;
Muntz, F.
;
Haskins, M.
;
Jones, B.
;
Hopwood, J.
1998
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity
Yogalingam, G.
;
Hopwood, J.
;
Crawley, A.
;
Anson, D.
1998
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes
Crawley, A.
;
Yogalingam, G.
;
Muller, V.
;
Hopwood, J.
1998
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies
Bunge, S.
;
Clements, P.
;
Byers, S.
;
Kleijer, W.
;
Brooks, D.
;
Hopwood, J.
Discover
Author
6
Yogalingam, G.
5
Brooks, D.
5
Weber, B.
4
Muller, V.
3
Bunge, S.
3
Byers, S.
3
Crawley, A.
3
Guo, X.H.
3
Kleijer, W.
3
Meikle, P.
.
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Subject
19
Humans
13
Mutation
11
Animals
10
Genotype
6
CHO Cells
6
Cricetinae
6
Fibroblasts
6
Iduronidase
6
Mucopolysaccharidosis I
6
Mucopolysaccharidosis III
.
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Date issued
13
2000 - 2007
9
1995 - 1999