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Results 1-10 of 12 (Search time: 0.003 seconds).
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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
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.
1999
Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells
Yogalingam, G.
;
Muller, V.
;
Hopwood, J.
;
Anson, D.
2006
Stop-codon read-through for patients affected by a lysosomal storage disorder
Brooks, D.
;
Muller, V.
;
Hopwood, J.
1996
Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome
Crawley, A.
;
Brooks, D.
;
Muller, V.
;
Petersen, B.
;
Isaac, E.
;
Bielicki, J.
;
King, B.
;
Boulter, C.
;
Moore, A.
;
Fazzalari, N.
;
Anson, D.
;
Byers, S.
;
Hopwood, J.
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
4
Brooks, D.
3
Anson, D.
3
Yogalingam, G.
2
Bielicki, J.
2
Crawley, A.
2
Perkins, K.
1
Boulter, C.
1
Byers, S.
1
Carey, W.
1
Clements, P.
.
next >
Subject
6
Mutation
5
Animals
5
Cells, Cultured
5
Fibroblasts
4
Phenotype
3
Cats
3
Cricetinae
3
Disease Models, Animal
3
Female
3
Glycosaminoglycans
.
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Date issued
7
2000 - 2007
5
1996 - 1999