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 mut...
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