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Original Article
LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls
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
Clin Exp Pediatr. 2012;55(10):388-392.   Published online October 29, 2012
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.

Methods

Genomic DNAs were obtained from 77...

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...