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

• Asıl Yazarlar: Ok Jeong Lee (Yazar), Su-Jin Kim (Yazar), Young Bae Sohn (Yazar), Hyung-Doo Park (Yazar), Soo-Youn Lee (Yazar), Chi-Hwa Kim (Yazar), Ah-Ra Ko (Yazar), Yeon-Joo Yook (Yazar), Su-Jin Lee (Yazar), Sung Won Park (Yazar), Se-Hwa Kim (Yazar), Sung-Yoon Cho (Yazar), Eun-Kyung Kwon (Yazar), Sun Ju Han (Yazar), Dong-Kyu Jin (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Korean Pediatric Society, 2012-03-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...