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Results 1-10 of 17 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
1999
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome)
Bhaumik, M.
;
Muller, V.
;
Rozaklis, T.
;
Johnson, L.
;
Dobrenis, K.
;
Bhattacharyya, R.
;
Wurzelmann, S.
;
Finamore, P.
;
Hopwood, J.
;
Walkley, S.
;
Stanley, P.
2002
Biochemical and molecular analysis of mucopolysaccharidoses in Turkey
Emre, S.
;
Terzioglu, M.
;
Coskun, T.
;
Tokatli, A.
;
Ozalp, I.
;
Muller, V.
;
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.
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.
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.
2007
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples
Parkinson-Lawrence, E.
;
Muller, V.
;
Hopwood, J.
;
Brooks, D.
2004
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients
Parkinson, E.
;
Muller, V.
;
Hopwood, J.
;
Brooks, D.
1996
Feline mucopolysaccharidosis type VI - characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease
Yogalingam, G.
;
Litjens, T.
;
Bielicki, J.
;
Crawley, A.
;
Muller, V.
;
Anson, D.
;
Hopwood, J.
2000
Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia
Jolly, R.
;
Allan, F.
;
Collett, M.
;
Rozaklis, T.
;
Muller, V.
;
Hopwood, J.
Discover
Author
6
Brooks, D.
4
Anson, D.
4
Yogalingam, G.
3
Bielicki, J.
3
Crawley, A.
2
Perkins, K.
2
Rozaklis, T.
1
Allan, F.
1
Bawden, M.
1
Bhattacharyya, R.
.
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Subject
12
Humans
6
Animals
6
Cells, Cultured
6
Mutation
5
Fibroblasts
4
Cats
4
Cricetinae
4
Mucopolysaccharidosis VI
4
Phenotype
4
Transfection
.
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Date issued
10
2000 - 2007
7
1996 - 1999