Sökning: "iduronate-2-sulfatase"
Hittade 1 avhandling innehållade ordet iduronate-2-sulfatase.
1. Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man
Sammanfattning : Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. LÄS MER
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