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

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

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...

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Bibliographic Details
Main Authors: Ok Jeong Lee, Su-Jin Kim, Young Bae Sohn, Hyung-Doo Park, Soo-Youn Lee, Chi-Hwa Kim, Ah-Ra Ko, Yeon-Joo Yook, Su-Jin Lee, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin
Format: Article
Language:English
Published: Korean Pediatric Society 2012-03-01
Series:Korean Journal of Pediatrics
Subjects:
Hunter syndrome
Mucopolysaccharidosis II
Iduronate sulfatase
Genotype phenotype
Online Access:http://kjp.or.kr/upload/pdf/kjped-55-88.pdf

Internet

http://kjp.or.kr/upload/pdf/kjped-55-88.pdf

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