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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...
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...

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...