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Issue Date
Title
Author(s)
2002
Biochemical and molecular analysis of mucopolysaccharidoses in Turkey
Emre, S.
;
Terzioglu, M.
;
Coskun, T.
;
Tokatli, A.
;
Ozalp, I.
;
Muller, V.
;
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.
1997
Mutations among Italian mucopolysaccharidosis Type I patients
Gatti, R.
;
Di Natale, P.
;
Villani, G.
;
Filocamo, M.
;
Muller, V.
;
Guo, X.H.
;
Nelson, P.
;
Scott, H.
;
Hopwood, J.
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.
2001
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Yogalingam, G.
;
Hopwood, J.
2004
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A
Muschol, N.
;
Storch, S.
;
Balhausen, D.
;
Beesley, C.
;
Westermann, J.
;
Gal, A.
;
Ullrich, K.
;
Hopwood, J.
;
Winchester, B.
;
Braulke, T.
1995
The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implications
Scott, H.
;
Bunge, S.
;
Gal, A.
;
Clarke, L.
;
Morris, C.
;
Hopwood, J.
2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
Litjens, T.
;
Hopwood, J.
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.
Discover
Author
9
Weber, B.
8
Brooks, D.
8
Yogalingam, G.
6
Muller, V.
4
Guo, X.H.
4
Kleijer, W.
3
Bunge, S.
3
Clements, P.
3
Crawley, A.
3
Gal, A.
.
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Subject
28
Humans
15
Animals
13
Phenotype
10
Genotype
10
Mucopolysaccharidosis III
9
CHO Cells
9
Cricetinae
8
Fibroblasts
8
Hydrolases
8
Iduronidase
.
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Date issued
1
2010 - 2011
17
2000 - 2009
12
1995 - 1999