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

• Main Authors: Ok Jeong Lee (Author), Su-Jin Kim (Author), Young Bae Sohn (Author), Hyung-Doo Park (Author), Soo-Youn Lee (Author), Chi-Hwa Kim (Author), Ah-Ra Ko (Author), Yeon-Joo Yook (Author), Su-Jin Lee (Author), Sung Won Park (Author), Se-Hwa Kim (Author), Sung-Yoon Cho (Author), Eun-Kyung Kwon (Author), Sun Ju Han (Author), Dong-Kyu Jin (Author)
• Format: Book
• Published: Korean Pediatric Society, 2012-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...