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Results 1-10 of 13 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1998
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype
Yamada, N.
;
Fukuda, S.
;
Tomatsu, S.
;
Muller, V.
;
Hopwood, J.
;
Nelson, J.
;
Kato, Z.
;
Yamagishi, A.
;
Sukegawa, K.
;
Kondo, M.
;
Orii, T.
1997
Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)
Bunge, S.
;
Ince, H.
;
Steglich, C.
;
Kleijer, W.
;
Beck, M.
;
Zaremba, J.
;
van Diggelen, O.
;
Weber, B.
;
Hopwood, J.
;
Gal, A.
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.
2008
Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease
Fuller, M.
;
Rozaklis, T.
;
Lovejoy, M.
;
Zarrinkalam, K.
;
Hopwood, J.
;
Meikle, P.
2004
Glycosaminoglycan degradation fragments in mucopolysaccharidosis I
Fuller, M.
;
Meikle, P.
;
Hopwood, J.
1995
In vivo delivery of human α-L-iduronidase in mice implanted with neo-organs
Salvetti, A.
;
Moullier, P.
;
Cornet, V.
;
Brooks, D.
;
Hopwood, J.
;
Danos, O.
;
Heard, J.M.
2002
In utero injection of a-L-iduronidase-carrying retrovirus in canine mucopolysaccharidosis type I: Infection of multiple tissues and neonatal gene expression
Meertens, L.
;
Zhao, Y.
;
Rosic-Kablar, S.
;
Li, L.
;
Chan, K.
;
Dobson, H.
;
Gartley, C.
;
Lutzko, C.
;
Hopwood, J.
;
Kohn, D.
;
Kruth, S.
;
Hough, M.
;
Dube, I.
2005
Prediction of neuropathology in mucopolysaccharidosis I patients
Fuller, M.
;
Brooks, D.
;
Evangelista, M.
;
Hein, L.
;
Hopwood, J.
;
Meikle, P.
2008
Effect of lysosomal storage on bis(monoacylglycero)phosphate
Meikle, P.
;
Duplock, S.
;
Blacklock, D.
;
Whitfield, P.
;
Macintosh, G.
;
Hopwood, J.
;
Fuller, M.
1997
Lysosomal biogenesis in lysosomal storage disorders
Karageorgos, L.
;
Isaac, E.
;
Brooks, D.
;
Ravenscroft, E.
;
Davey, R.
;
Hopwood, J.
;
Meikle, P.
Discover
Author
5
Fuller, M.
5
Meikle, P.
4
Brooks, D.
3
Muller, V.
3
Weber, B.
2
Karageorgos, L.
1
Anson, D.
1
Beck, M.
1
Bielicki, J.
1
Blacklock, D.
.
next >
Subject
13
Humans
6
Animals
6
Skin
4
Cricetinae
4
Iduronidase
4
Lysosomal Storage Diseases
4
Mutation
3
Female
3
Genetic Vectors
3
Lysosomes
.
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Date issued
9
2000 - 2008
4
1995 - 1999