Title : Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene.

Pub. Date : 2013 Aug 23

PMID : 23726270






1 Functional Relationships(s)
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1 Enzyme replacement therapy (ERT) using idursulfase (Elaprase ) was conducted to the patient and it improved hepatosplenomegaly, white blood cells and platelets number, and decreased the level of urinary glycosaminoglycan. Glycosaminoglycans iduronate 2-sulfatase Homo sapiens