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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.
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.
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
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.
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.
2004
a-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients
Hein, L.
;
Bawden, M.
;
Muller, V.
;
Sillence, D.
;
Hopwood, J.
;
Brooks, D.
2005
Prediction of neuropathology in mucopolysaccharidosis I patients
Fuller, M.
;
Brooks, D.
;
Evangelista, M.
;
Hein, L.
;
Hopwood, J.
;
Meikle, P.
2007
Secondary sphingolipid accumulation in a macrophage model of Gaucher disease
Hein, L.
;
Meikle, P.
;
Hopwood, J.
;
Fuller, M.
2008
Lipid composition of microdomains is altered in a cell model of Gaucher disease
Hein, L.
;
Duplock, S.
;
Hopwood, J.
;
Fuller, M.
2006
Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: Enzyme dose and interval
Auclair, D.
;
Hein, L.
;
Hopwood, J.
;
Byers, S.
Discover
Author
7
Brooks, D.
3
Fuller, M.
3
Meikle, P.
2
Auclair, D.
2
Clements, P.
2
Giugliani, R.
2
Karageorgos, L.
1
Bawden, M.
1
Beck, M.
1
Bockmann, M.
.
next >
Subject
7
Humans
3
Cells, Cultured
2
Adult
2
Animals
2
Female
2
Gaucher Disease
2
Glucosylceramides
2
Iduronidase
2
Macrophages
2
Models, Biological
.
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