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Original Article
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
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
Clin Exp Pediatr. 2012;55(3):88-92.   Published online March 16, 2012
Purpose

Mucopolysaccharidosis 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 fibroblasts, was reported to be related to clinical phenotype by Sukegawa-Hayasaka et al. Measurement of residual plasma IDS...

Case Report
A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis
Ju Young Lee, Jeong Ok Shim, Hye Ran Yang, Ju Young Chang, Choong Ho Shin, Jae Sung Ko, Jeong Kee Seo, Woo Sun Kim, Gyeong Hoon Kang, Jeong Han Song, Jong Won Kim
Clin Exp Pediatr. 2008;51(6):650-654.   Published online June 15, 2008
Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which...
Original Article
A case of Hunter syndrome.
Suk Hyun Ha, Young Sun Ko, Mi Soo Ahn, Ji Sub Oh
Clin Exp Pediatr. 1991;34(3):398-403.   Published online March 31, 1991
Authors experienced a case of Hunter syndrome in 4 old male patient, whose diagnosis was established by typical findings in physical examination, family history, screening test using methylene blue for mucopolysaccaharides, and radiologic studies. We report this case with a brief review of literatures.
Case Report
A Case of Hunter Syndrome.
S K Kim, W P Chung, H S Kim, S H Kim, C M Kang
Clin Exp Pediatr. 1986;29(12):1393-1398.   Published online December 31, 1986
Authors experienced a case of Hunter syndrome in a 5 year old girl who was admitted to Pediatric Department of Dong-San Hospital, Keimyung University for the evaluation of short stature and mental retardation. Patient had characteristic peculiar features of mucopolysaccharidoses and changes in skull, rib, vertebra and long bone radiography. Corneal clouding was absent. Screenings test using methylene blue for mucopolysaccharidoses was positive. The review of...