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Issue Date
Title
Author(s)
1998
Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome
Van Royen-Kerkhof, A.
;
Pollthe, B.
;
Kleijer, W.
;
van Diggelen, O.
;
Aerts, J.
;
Hopwood, J.
;
Beemer, F.
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.
1998
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes
Crawley, A.
;
Yogalingam, G.
;
Muller, V.
;
Hopwood, J.
1998
Receptor Mediated Binding of Two Glycosylation Forms of N-Acetylgalactosamine-4-Sulphatase
Fuller, M.
;
Hopwood, J.
;
Anson, D.
Discover
Author
2
Kleijer, W.
2
Muller, V.
2
van Diggelen, O.
1
Aerts, J.
1
Anson, D.
1
Beemer, F.
1
Blanch, L.
1
Crawley, A.
1
Fukuda, S.
1
Fuller, M.
.
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Subject
5
Humans
4
Female
3
Mutation
2
Animals
2
Cells, Cultured
2
Child, Preschool
2
Fibroblasts
2
Mucopolysaccharidosis VI
2
Pedigree
1
Adolescent
.
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