Article
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Molecular genetics and metabolism - 1 Feb 2007
Karageorgos Litsa, Brooks Doug A, Harmatz Paul, Ketteridge David, Pollard Anthony, Melville Elizabeth L, Parkinson-Lawrence Emma, Clements Peter R, Hopwood John J
Abstract excerpt
Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (ARSB) gene. These mutations result in a deficiency of ARSB activity. Ten MPS VI patients were involved in a phase II clinical study of enzyme replacement therapy. Direct sequencing of genomic DNA from these patients was used to identify ARSB mutations. Each...
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