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

• मुख्य लेखकों: Ok Jeong Lee (लेखक), Su-Jin Kim (लेखक), Young Bae Sohn (लेखक), Hyung-Doo Park (लेखक), Soo-Youn Lee (लेखक), Chi-Hwa Kim (लेखक), Ah-Ra Ko (लेखक), Yeon-Joo Yook (लेखक), Su-Jin Lee (लेखक), Sung Won Park (लेखक), Se-Hwa Kim (लेखक), Sung-Yoon Cho (लेखक), Eun-Kyung Kwon (लेखक), Sun Ju Han (लेखक), Dong-Kyu Jin (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Korean Pediatric Society, 2012-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...