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Yoo-Mi Kim  (Kim YM) 4 Articles
Editorial
Genetics and Metabolism
Improving the lives of children with neurofibromatosis type 1
Yoo-Mi Kim
Clin Exp Pediatr. 2021;64(4):165-166.   Published online September 18, 2020
· The early diagnosis of neurofibromatosis type 1 (NF1) could be supported by molecular testing in sporadic NF1 patients and would benefit their health.
· The well-planned surveillance and introduction of newly developed drugs targeting molecular pathways could improve the lives of pediatric NF1 patients.
Case Report
Genetics and Metabolism
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

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on...

Original Article
Lowe syndrome: a single center's experience in Korea
Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2014;57(3):140-148.   Published online March 31, 2014
Purpose

Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.

Methods

The clinical findings and results of genetic studies were...

Case Report
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2013;56(8):351-354.   Published online August 27, 2013

Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such...

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