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Results 1-10 of 12 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
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.
2011
Gaucher disease in sheep
Karageorgos, L.
;
Lancaster, M.
;
Nimmo, J.
;
Hopwood, J.
2007
Bovine mucopolysaccharidosis type IIIB
Karageorgos, L.
;
Hill, B.
;
Bawden, M.
;
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.
2005
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum
Brooks, D.
;
Gibson, G.
;
Karageorgos, L.
;
Hein, L.
;
Robertson, E.
;
Hopwood, J.
1996
Structure and sequence of the human sulphamidase gene
Karageorgos, L.
;
Guo, X.H.
;
Blanch, L.
;
Weber, B.
;
Anson, D.
;
Scott, H.
;
Hopwood, J.
2010
Genetic manipulation of murine embryonic stem cells with enhanced green fluorescence protein and sulfatase-modifying factor I genes
Zhao, G.
;
Karageorgos, L.
;
Hutchinson, R.
;
Hopwood, J.
;
Hemsley, K.
2014
Aminoglycoside-induced premature stop codon read-through of mucopolysaccharidosis type I patient Q70X and W402X mutations in cultured cells
Kamei, M.
;
Kasperski, K.
;
Fuller, M.
;
Parkinson-Lawrence, E.
;
Karageorgos, L.
;
Belakhov, V.
;
Baasov, T.
;
Hopwood, J.
;
Brooks, D.
;
Zschocke, J.
;
Gibson, K.
;
BRown, G.
;
Morava, E.
;
Peters, V.
Discover
Author
8
Brooks, D.
3
Clements, P.
3
Harmatz, P.
3
Meikle, P.
3
Pollard, A.
2
Davey, R.
2
Hein, L.
2
Isaac, E.
2
Ketteridge, D.
2
Melville, E.
.
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Subject
7
Humans
4
Animals
4
DNA Mutational Analysis
4
Mutation, Missense
4
Skin
3
Cells, Cultured
3
Fibroblasts
3
Lysosomes
3
N-Acetylgalactosamine-4-Sulfatase
2
Adult
.
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Date issued
3
2010 - 2014
6
2000 - 2009
3
1996 - 1999