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Issue Date
Title
Author(s)
1998
Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome
Van Royen-Kerkhof, A.
;
Pollthe, B.
;
Kleijer, W.
;
van Diggelen, O.
;
Aerts, J.
;
Hopwood, J.
;
Beemer, F.
2007
Morphopathological features in tissues of α-mannosidosis guinea pigs at different gestational ages
Auclair, D.
;
Hopwood, J.
1998
Identification of a common mutation (R245h) in Sanfilippo A patients from the Netherlands
Weber, B.
;
Vandekamp, J.
;
Kleijer, W.
;
Guo, X.H.
;
Blanch, L.
;
van Diggelen, O.
;
Wevers, R.
;
Poorthuis, B.
;
Hopwood, J.
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.
2004
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
Harmatz, P.
;
Whitley, C.
;
Waber, L.
;
Pais, R.
;
Steiner, R.
;
Plecko, B.
;
Kaplan, P.
;
Simon, J.
;
Butensky, E.
;
Hopwood, J.
2013
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E.
;
Rosenfeld, H.
;
Kampmann, C.
;
Johnson, J.
;
Beck, M.
;
Giugliani, R.
;
Guffon, N.
;
Ketteridge, D.
;
Miranda, C.
;
Scarpa, M.
;
Schwartz, I.
;
Teles, E.
;
Wraith, J.
;
Barrios, P.
;
Dias da Silva, E.
;
Kurio, G.
;
Richardson, M.
;
Gildengorin, G.
;
Hopwood, J.
;
Imperiale, M.
;
et al.
2005
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Swiedler, S.
;
Beck, M.
;
Bajbouj, M.
;
Giugliani, R.
;
Schwartz, I.
;
Harmatz, P.
;
Wraith, J.
;
Roberts, J.
;
Ketteridge, D.
;
Hopwood, J.
;
Guffon, N.
;
Miranda, C.
;
Teles, E.
;
Berger, K.
;
Piscia-Nichols, C.
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.
2005
Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharides
Ramsay, S.
;
Meikle, P.
;
Hopwood, J.
;
Clements, P.
2008
Behavioural characterisation of the alpha-mannosidosis guinea pig
Robinson, A.
;
Crawley, A.
;
Auclair, D.
;
Weston, P.
;
Hirte, C.
;
Hemsley, K.
;
Hopwood, J.
Discover
Author
6
Harmatz, P.
5
Ketteridge, D.
4
Brooks, D.
4
Crawley, A.
4
Giugliani, R.
4
Guffon, N.
4
Meikle, P.
4
Miranda, C.
4
Swiedler, S.
4
Teles, E.
.
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Subject
25
Humans
24
Male
13
Animals
12
Mucopolysaccharidosis VI
11
Child
10
Adolescent
10
N-Acetylgalactosamine-4-Sulfatase
8
Adult
8
Recombinant Proteins
7
Child, Preschool
.
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Date issued
3
2010 - 2013
21
2000 - 2009
9
1995 - 1999