Associated Papers
Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.
Naz H et al.
Rejuvenation Research, 2013
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.
Durand P et al.
Human Molecular Genetics, 2000
Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells.
Ray J et al.
Genomics, 1998
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
Vervoort R et al.
American Journal of Human Genetics, 1996
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
Yamada S et al.
Human Molecular Genetics, 1995
[Ultrastructure of skin fibroblasts in storage diseases (mucopolysaccharidosis types IV and VI)].
Bruskina VIa et al.
Tsitologiia I Genetika, 0
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