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Results 11-20 of 129 (Search time: 0.006 seconds).
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Issue Date
Title
Author(s)
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.
1998
Recombinant human sulphamidase: expression, amplification, purification and characterization
Bielicki, J.
;
Hopwood, J.
;
Melville, E.
;
Anson, D.
1997
Expression, Purification and Characterization of Recombinant Caprine N-Acetylglucosamine-6-Sulphatase
Litjens, T.
;
Bielicki, J.
;
Anson, D.
;
Friderici, K.
;
Jones, M.
;
Hopwood, J.
2015
Butanolysis derivatization: improved sensitivity in LC-MS/MS quantitation of heparan sulfate in urine from mucopolysaccharidosis patients
Trim, P.
;
Hopwood, J.
;
Snel, M.
1995
Human acetyl-coenzyme A : a-glucosaminide N-acetyltransferase : kinetic characterisation and mechanistic interpretation
Meikle, P.
;
Whittle, A.
;
Hopwood, J.
1995
Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase
Bielicki, J.
;
Fuller, M.
;
Guo, X.H.
;
Morris, C.
;
Hopwood, J.
;
Anson, D.
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.
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.
Discover
Author
39
Meikle, P.
33
Brooks, D.
20
Fuller, M.
13
Weber, B.
12
Muller, V.
10
Anson, D.
10
Yogalingam, G.
9
Crawley, A.
8
Byers, S.
8
Guo, X.H.
.
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Subject
61
Animals
36
Recombinant Proteins
29
Cricetinae
29
Mutation
27
Female
27
Fibroblasts
26
Cells, Cultured
26
CHO Cells
26
Mucopolysaccharidosis VI
24
N-Acetylgalactosamine-4-Sulfatase
.
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Date issued
9
2010 - 2015
81
2000 - 2009
39
1995 - 1999