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Issue Date
Title
Author(s)
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.
2003
Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome
Van Hove, J.
;
Wevers, R.
;
Van Cleemput, J.
;
Moerman, P.
;
Sciot, R.
;
Matthijs, G.
;
Schollen, E.
;
de Jonge, J.
;
Carey, W.
;
Muller, V.
;
Nicholls, C.
;
Perkins, K.
;
Hopwood, J.
2000
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping
Costanzi, E.
;
Beccari, T.
;
Stinchi, S.
;
Bibi, L.
;
Hopwood, J.
;
Orlacchio, A.
2005
Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharides
Ramsay, S.
;
Meikle, P.
;
Hopwood, J.
;
Clements, P.
2008
Plasma lipids are altered in Gaucher disease: Biochemical markers to evaluate therapeutic intervention
Meikle, P.
;
Whitfield, P.
;
Rozaklis, T.
;
Blacklock, D.
;
Duplock, S.
;
Elstein, D.
;
Zimran, A.
;
Mengel, E.
;
Cannell, P.
;
Hopwood, J.
;
Fuller, M.
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.
2005
Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease
Umapathysivam, K.
;
Hopwood, J.
;
Meikle, P.
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.
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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