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Editorial
Genetics and Metabolism
Advancing orphan drug development for rare diseases
Jung Min Ko
Clin Exp Pediatr. 2024;67(7):356-357.   Published online November 17, 2023
· Rare diseases present unique challenges and unmet needs for which the development of orphan drugs tailored to them offers hope.
· Despite the hurdles posed by limited patient populations, orphan drug designations from regulatory agencies provide incentives, such as extended market exclusivity and tax credits, that ignite transformative advances.
· Scientific progress in genomics, personalized medicine, and analytics empowers precise interventions by decoding genetic anomalies and encouraging effective treatments.
Review Article
Kabuki syndrome: clinical and molecular characteristics
Chong-Kun Cheon, Jung Min Ko
Clin Exp Pediatr. 2015;58(9):317-324.   Published online September 21, 2015

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct...

Original Article
The strong association of left-side heart anomalies with Kabuki syndrome
Ja Kyoung Yoon, Kyung Jin Ahn, Bo Sang Kwon, Gi Beom Kim, Eun Jung Bae, Chung Il Noh, Jung Min Ko
Clin Exp Pediatr. 2015;58(7):256-262.   Published online July 22, 2015
Purpose

Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center.

Methods

A retrospective analysis was conducted for a total of 13 patients with Kabuki...

The natural history and prognostic factors of Graves' disease in Korean children and adolescents
Seung Min Song, Ji-Seok Youn, Jung Min Ko, Chong Kun Cheon, Jin-Ho Choi, Han Wook Yoo
Clin Exp Pediatr. 2010;53(4):585-591.   Published online April 15, 2010
Purpose : Graves' disease is the most common cause of hyperthyroidism in children and adolescents. In this study, we investigated the natural course and the prognostic factors of Graves' disease in Korean children and adolescents. Methods : One-hundred thirteen (88 girls and 25 boys) patients were included in this study. A retrospective analysis was made of all patients who were diagnosed...
Case Report
A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene
Mee Rim Park, Jung Min Ko, Chong-Keun Cheon, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2008;51(11):1236-1240.   Published online November 15, 2008
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with...
Original Article
Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria
Eun Hye Lee, Jung Min Ko, Jae-Min Kim, Han-Wook Yoo
Clin Exp Pediatr. 2008;51(9):964-970.   Published online September 15, 2008
Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes....
Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome
Keun Wook Bae, Jung Min Ko, Han-Wook Yoo
Clin Exp Pediatr. 2008;51(3):315-322.   Published online March 15, 2008
Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone...