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International Journal of Stem Cells|March 6, 2026
<i>PRPS1</i> (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide SupplementationJi-Hee Kim, Su-Jung Park, Jeong-A Lee, et al.
Pediatric Emergency Care|September 22, 2025
Measured Serum Osmolality as a Severity Marker of Pediatric Hyperglycemic CrisesSukdong Yoo, Eunha Hwang, Jeong-Eun Kang, et al.
Yonsei Medical Journal|February 26, 2019
A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous <i>OXCT1</i> Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase DeficiencyYoung A Kim, Seong Heon Kim, Chong Kun Cheon, et al.
European Journal of Pediatrics|October 15, 2008
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase geneJung Min Ko, Chong-Kun Cheon, Gu-Hwan Kim, et al.
Annals of Pediatric Endocrinology & Metabolism|January 18, 2022
Pediatric management challenges of hyperglycemic hyperosmolar state: case series of Korean adolescents with type 2 diabetesSumin Lee, Sukdong Yoo, Ju Young Yoon, et al.
Annals of Pediatric Endocrinology & Metabolism|January 31, 2024
The impacts of COVID-19 on childhood obesity: prevalence, contributing factors, and implications for managementMin-Ji Kim, Minji Kim, Ju Young Yoon, et al.
BMC Pediatrics|June 13, 2026
X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencingHa Young Jo, Young Mi Kim, Hyerin Kim, et al.
Pediatric Neurology|April 20, 2010
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorderChong Kun Cheon, Beom Hee Lee, Jung Min Ko, et al.
Frontiers in Neurology|November 28, 2022
Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variabilityJae-Hwan Choi, Hyun Sung Kim, Eun Hye Oh, et al.
Ophthalmic Genetics|December 18, 2020
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature reviewChong Kun Cheon, Hee Young Choi, Su Hwan Park, et al.
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