- Case Report
- A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
-
Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
-
Clin Exp Pediatr. 2013;56(8):355-358. Published online August 27, 2013
-
|
|
Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few... |
-
-
- Correspondence
- Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
-
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin
-
Clin Exp Pediatr. 2013;56(3):143-143. Published online March 18, 2013
-
-
-
- Original Article
- Continuous renal replacement therapy in neonates weighing less than 3 kg
-
Young Bae Sohn, Kyung Hoon Paik, Hee Yeon Cho, Su Jin Kim, Sung Won Park, Eun Sun Kim, Yun Sil Chang, Won-Soon Park, Yoon-Ho Choi, Dong-Kyu Jin
-
Clin Exp Pediatr. 2012;55(8):286-292. Published online August 23, 2012
-
|
|
Purpose Continuous renal replacement therapy (CRRT) is becoming the treatment of choice for supporting critically ill pediatric patients. However, a few studies present have reported CRRT use and outcome in neonates weighing less than 3 kg. The aim of this study is to describe the clinical application, outcome, and complications of CRRT in small neonates. MethodsA retrospective review was performed in 8... |
-
-
- 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... |
-
-
- Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty
-
Doosoo Kim, Sung-Yoon Cho, Se-Hyun Maeng, Eun Sang Yi, Yu Jin Jung, Sung Won Park, Young Bae Sohn, Dong-Kyu Jin
-
Clin Exp Pediatr. 2012;55(12):481-486. Published online December 20, 2012
-
|
|
Purpose Precocious puberty is defined as breast development before the age of 8 years in girls. The present study aimed to reveal the diagnosis of Korean girls referred for precocious puberty and to compare the constitutional and endocrinological features among diagnosis groups. MethodsThe present study used a retrospective chart review of 988 Korean girls who had visited a pediatric endocrinology clinic from... |
-
-
- Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
-
Na Hee Lee, Sung Yoon Cho, Se Hyun Maeng, Tae Yeon Jeon, Young Bae Sohn, Su Jin Kim, Hyung-Doo Park, Dong Kyu Jin
-
Clin Exp Pediatr. 2012;55(11):430-437. Published online November 23, 2012
-
|
|
Purpose Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for... |
-
-
- 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. MethodsGenomic DNAs were obtained from 77... |
-
-
- The metabolic syndrome and body composition in childhood cancer survivors
-
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
-
Clin Exp Pediatr. 2011;54(6):253-259. Published online June 30, 2011
-
|
|
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... |
-
-
|
