A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

• Egile Nagusiak: Ok Jeong Lee (Egilea), Su-Jin Kim (Egilea), Young Bae Sohn (Egilea), Hyung-Doo Park (Egilea), Soo-Youn Lee (Egilea), Chi-Hwa Kim (Egilea), Ah-Ra Ko (Egilea), Yeon-Joo Yook (Egilea), Su-Jin Lee (Egilea), Sung Won Park (Egilea), Se-Hwa Kim (Egilea), Sung-Yoon Cho (Egilea), Eun-Kyung Kwon (Egilea), Sun Ju Han (Egilea), Dong-Kyu Jin (Egilea)
• Formatua: Liburua
• Argitaratua: Korean Pediatric Society, 2012-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

PurposeMucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. MPS II causes a wide phenotypic spectrum of symptoms ranging from mild to severe. IDS activity, which is measured in leukocyte pellets or fibroblast...