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Results 1-10 of 12 (Search time: 0.002 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.
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.
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.
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.
1997
Molecular defects in Sanfilippo syndrome type A
Blanch, L.
;
Weber, B.
;
Guo, X.H.
;
Scott, H.
;
Hopwood, J.
1999
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
Weber, B.
;
Guo, X.H.
;
Kleijer, W.
;
van de Kamp, J.
;
Poorthuis, B.
;
Hopwood, J.
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.
1998
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes
Crawley, A.
;
Yogalingam, G.
;
Muller, V.
;
Hopwood, J.
Discover
Author
6
Weber, B.
4
Guo, X.H.
4
Kleijer, W.
3
Bunge, S.
3
Muller, V.
3
Scott, H.
3
Yogalingam, G.
2
Blanch, L.
2
Byers, S.
2
Crawley, A.
.
next >
Subject
11
Humans
7
Genotype
7
Phenotype
5
Mucopolysaccharidosis III
4
Alleles
4
Fibroblasts
4
Gene Frequency
4
Hydrolases
4
Iduronidase
4
Male
.
next >
Date issued
2
1999
6
1998
3
1997
1
1995