- Original Article
- A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients
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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
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Clin Exp Pediatr. 2012;55(3):88-92. Published online March 16, 2012
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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... |
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- LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
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Sung Won Park, Seung-Tae Lee, Young Bae Sohn, Sung Yoon Cho, Se-Hwa Kim, Su Jin Kim, Chi Hwa Kim, Ah-Ra Ko, Kyung-Hoon Paik, Jong-Won Kim, Dong-Kyu Jin
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Clin Exp Pediatr. 2012;55(10):388-392. Published online October 29, 2012
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Purpose Single-nucleotide polymorphism (SNP) markers within LIN28B have been reported to be related to the timing of pubertal growth. However, no study has investigated the frequency of genetic markers in girls with precocious puberty (PP) or early puberty (EP). This study aimed to determine the frequency of putative genetic markers in girls with PP or EP. MethodsGenomic DNAs were obtained from 77... |
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- The metabolic syndrome and body composition in childhood cancer survivors
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Young Bae Sohn, Su Jin Kim, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Soo Hyun Lee, Keon Hee Yoo, Ki Woong Sung, Jae Hoon Chung, Hong Hoe Koo, Dong-Kyu Jin
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Clin Exp Pediatr. 2011;54(6):253-259. Published online June 30, 2011
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Purpose Long-term survivors of childhood cancer appear to have an increased risk for the metabolic syndrome, subsequent type 2 diabetes and cardiovascular disease in adulthood compared to healthy children. The purpose of this study was to investigate the frequency of the metabolic syndrome and associated factors in childhood cancer survivors at a single center in Korea. MethodsWe performed a retrospective review of... |
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