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Results 1-10 of 14 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
Litjens, T.
;
Hopwood, J.
2004
Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
Hermans, M.
;
van Leenen, D.
;
Kroos, M.
;
Beesley, C.
;
Van der Ploeg, A.
;
Sakuraba, H.
;
Wevers, R.
;
Kleijer, W.
;
Mikelakakis, H.
;
Kirk, E.
;
Fletcher, J.
;
Bosshard, N.
;
Basel-Vanagaite, L.
;
Besley, G.
;
Reuser, A.
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.
1999
Expression and characterization of wild type and mutant recombinant human sulfamidase - Implications for Sanfilippo (mucopolysaccharidosis IIIA) syndrome
Perkins, K.
;
Byers, S.
;
Yogalingam, G.
;
Weber, B.
;
Hopwood, J.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2005
Analysis of normal and mutant iduronate-2-sulphatase conformation
Parkinson-Lawrence, E.
;
Turner, C.
;
Hopwood, J.
;
Brooks, D.
2003
Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats
Crawley, A.
;
Muntz, F.
;
Haskins, M.
;
Jones, B.
;
Hopwood, J.
2003
Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype
Maxwell, M.
;
Bjorkman, J.
;
Nguyen, T.
;
Sharp, P.
;
Finnie, J.
;
Paterson, C.
;
Tonks, I.
;
Paton, B.
;
Kay, G.
;
Crane, D.
1998
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity
Yogalingam, G.
;
Hopwood, J.
;
Crawley, A.
;
Anson, D.
Discover
Author
7
Hopwood, J.
4
Gecz, J.
4
Yogalingam, G.
3
Crawley, A.
2
Brooks, D.
2
Jolly, L.
2
Muller, V.
1
Abidi, F.
1
Anson, D.
1
Barry, S.
.
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Subject
10
Humans
6
Female
6
Male
5
Genotype
5
Mice
4
CHO Cells
4
Cricetinae
4
Intellectual Disability
4
Mucopolysaccharidosis VI
3
Cats
.
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Date issued
2
2010 - 2017
9
2000 - 2009
3
1998 - 1999