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Results 1-10 of 47 (Search time: 0.006 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.
2007
Mutational analysis of 105 mucopolysaccharidosis type VI patients
Karageorgos, L.
;
Brooks, D.
;
Pollard, A.
;
Melville, E.
;
Hein, L.
;
Clements, P.
;
Ketteridge, D.
;
Swiedler, S.
;
Beck, M.
;
Giugliani, R.
;
Harmatz, P.
;
Wraith, J.
;
Guffon, N.
;
Teles, E.
;
Miranda, C.
;
Hopwood, J.
1997
Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker
Meikle, P.
;
Brooks, D.
;
Ravenscroft, E.
;
Yan, M.
;
Williams, R.
;
Jaunzems, A.
;
Chataway, T.
;
Karageorgos, L.
;
Davey, R.
;
Boulter, C.
;
Carlsson, S.
;
Hopwood, J.
2003
The a-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation
Hein, L.
;
Hopwood, J.
;
Clements, P.
;
Brooks, D.
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.
1999
Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites
Bradford, T.
;
Gething, M.
;
Davey, R.
;
Hopwood, J.
;
Brooks, D.
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.
2012
Mass spectrometric quantification of glycogen to assess primary substrate accumulation in the Pompe mouse
Fuller, M.
;
Duplock, S.
;
Turner, C.
;
Davey, P.
;
Brooks, D.
;
Hopwood, J.
;
Meikle, P.
2007
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples
Parkinson-Lawrence, E.
;
Muller, V.
;
Hopwood, J.
;
Brooks, D.
Discover
Author
4
Isaac, E.
4
Kakavanos, R.
4
Parkinson, E.
3
Bradford, T.
3
Byers, S.
3
Crawley, A.
3
Davey, R.
3
Dean, C.
3
Giugliani, R.
3
Harmatz, P.
.
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Subject
33
Humans
24
Animals
12
Iduronidase
11
CHO Cells
11
Cricetinae
11
Mucopolysaccharidosis I
10
Lysosomes
10
N-Acetylgalactosamine-4-Sulfatase
10
Recombinant Proteins
9
Fibroblasts
.
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Date issued
3
2010 - 2014
30
2000 - 2009
14
1995 - 1999