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Original Article
Genetics and Metabolism
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center
Min-Sun Kim, Ari Song, Minji Im, June Huh, I-Seok Kang, Jinyoung Song, Aram Yang, Jinsup Kim, Eun-Kyung Kwon, Eu-Jin Choi, Sun-Ju Han, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin
Clin Exp Pediatr. 2019;62(6):224-234.   Published online October 4, 2018

Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alphaglucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean...
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
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.

Methods

Genomic DNAs were obtained from 77...

Bacterial meningitis in children experienced at a university hospital, 1993-2006
Sung Yoon Cho, Tae Yeon Kim, Hyunju Lee, Kyung Hyo Kim, Eun Sun Yoo, Hae Soon Kim, Eun Ae Park, Kyung Ha Ryu, Jeong Wan Seo, Sejung Sohn, Seung Joo Lee
Clin Exp Pediatr. 2008;51(10):1077-1084.   Published online October 15, 2008
Purpose : Despite the seriousness of bacterial meningitis in children, there is little information on the incidence, causative organisms, mortality rate and age distribution. We studied the frequency by age group and causal pathogens, and clinical characteristics in children with bacterial meningitis in the private sector in Korea. Methods : The medical records containing the data on bacterial meningitis patients...
Case Report
Kawasaki disease presenting as retropharyngeal abscess
Sung Yoon Cho, Hye Kyung Cho, Ky Young Cho, Hae Soon Kim, Sejung Sohn
Clin Exp Pediatr. 2008;51(9):1023-1027.   Published online September 15, 2008
A group of patients with Kawasaki disease (KD) initially present with cervical lymphadenitis or deep neck infection. These unusual KD presentations lead to unnecessary antibiotic therapy or surgical intervention, thereby delaying intravenous immunoglobulin treatment and increasing the risk of coronary artery damage. We present four KD patients whose initial presentations mimicked a retropharyngeal abscess. Nonsuppurative cervical lymphadenitis or suspected neck...
Bronchial foreign body aspiration diagnosed with MDCT
Hye Kyung Cho, Ky Young Cho, Sung Yoon Cho, Sejung Sohn
Clin Exp Pediatr. 2007;50(8):781-784.   Published online August 15, 2007
Foreign body aspiration (FBA) is a common accident in young children. Undiagnosed and retained foreign bodies may result in severe early and late complications such as asphyxia, pneumonia, atelectasis and bronchiectasis. Moreover, because it can mimic bronchiolitis, croup or asthma, an accurate history and a high index of suspicion are of paramount importance for early diagnosis. With our experience on...
Original Article
A Clinical Study on Patients with Porencephaly
Sung Yoon Cho, Jai Yoon Kim, Kwang Sun Han, Sa Jun Chung, Chang Il Ahn
Clin Exp Pediatr. 1993;36(7):975-981.   Published online July 15, 1993
Porencephaly is relatively rare condition defined by a defect or cavity in the cerebrum owing to a developmental malformation or to a destructive lesion. Forty-five porencephaly patients diagnosed by Brain CT were clinically analyzed and the following results were obtained. 1) By the age group presenting initial symptoms, the peak incidence was from 1 month to below 3 years old. 2) In initial...