Genetics and Metabolism

  • HOME
  • TOPICS
  • Genetics and Metabolism
Editorials
Genetics and Metabolism
Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease
Chong Kun Cheon
Clin Exp Pediatr. 2020;63(1):14-15.   Published online August 7, 2019
Original Articles
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
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Clin Exp Pediatr. 2018;61(12):403-406.   Published online September 16, 2018
Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set...
Letter to the Editor
Commentary on “Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea”
Sung-Min Park, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Clin Exp Pediatr. 2018;61(1):35-36.   Published online January 22, 2018
Case Report
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Young A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheon
Clin Exp Pediatr. 2017;60(12):408-412.   Published online December 22, 2017
Original Articles
Neonatal indirect hyperbilirubinemia and glucose-6-phosphate dehydrogenase deficiency
Hasan M. Isa, Masooma S. Mohamed, Afaf M. Mohamed, Adel Abdulla, Fuad Abdulla
Clin Exp Pediatr. 2017;60(4):106-111.   Published online April 25, 2017
Case Report
A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Clin Exp Pediatr. 2017;60(3):94-97.   Published online March 27, 2017
Edentulous child with Allgrove syndrome: a rare case report
Mohammad Vahedi, Shima Fathi, Hanif Allahbakhshi
Clin Exp Pediatr. 2016;59(11):456-459.   Published online November 18, 2016
A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S1-S4.   Published online November 30, 2016
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S19-S24.   Published online November 30, 2016
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S37-S40.   Published online November 30, 2016
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S41-S44.   Published online November 30, 2016
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma
Azita Tavasoli, Shirin Sayyahfar, Babak Behnam
Clin Exp Pediatr. 2016;59(6):276-279.   Published online June 30, 2016
Original Articles
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2016;59(1):16-23.   Published online January 22, 2016

Editorial Office
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7305    Fax: +82-2-3473-7307    E-mail: office@e-cep.org                

Copyright © 2020 by Korean Pediatric Society. All rights reserved.

Close layer
prev next