Article
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
Molecular genetics and metabolism - 1 Jan 2004
Parkinson Emma J, Muller Viv, Hopwood John J, Brooks Doug A
Abstract excerpt
The lysosomal storage disorder mucopolysaccharidosis type II (MPS II) is caused by a deficiency in the activity of the lysosomal exohydrolase iduronate-2-sulphatase (IDS). MPS II patients present within a spectrum of clinical phenotypes, which reflects the dynamic balance between the level of mutant protein, its residual enzyme activity and the resultant level of storage product. In this study, we have developed...
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