- Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
- Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S41-S44.
-
- Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
- Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S37-S40.
-
- Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
- Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28.
-
- Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
- Go Hun Seo, Ja Hye Kim, Ja Hyang Cho et al.
- Clin Exp Pediatr. 2016;59(1):16-23.
-
- Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation
- Sung Yeon Ahn, Gu-Hwan Kim, Han-Wook Yoo
- Clin Exp Pediatr. 2015;58(8):309-312.
-
- Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
- Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim et al.
- Clin Exp Pediatr. 2013;56(8):351-354.
-
- Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation
- Eun Sam Rho, Earl Kim, Hong Koh et al.
- Clin Exp Pediatr. 2013;56(5):227-230.
-
- X-linked recessive myotubular myopathy with MTM1 mutations
- Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee et al.
- Clin Exp Pediatr. 2013;56(3):139-142.
-
- Lowe syndrome: a single center's experience in Korea
- Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim et al.
- Clin Exp Pediatr. 2014;57(3):140-148.
-
- Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
- Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim et al.
- Clin Exp Pediatr. 2012;55(2):48-53.
-
- Transient neonatal diabetes mellitus with macroglossia
diagnosed by methylation specific PCR (MS-PCR)
- Hye Young Jin, Jin-Ho Choi, Gu-Hwan Kim et al.
- Clin Exp Pediatr. 2010;53(3):432-436.
-
- 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 et al.
- Clin Exp Pediatr. 2008;51(11):1236-1240.
-
- A Case of Lesch-Nyhan Syndrome
- Joon-Sung Kim, Jae-Seung Lee, Ha-Young Noh et al.
- Clin Exp Pediatr. 2003;46(5):505-509.
-
- Identification of Novel Mutations and Three Most Common Mutations in the Human ATP7B Gene of Korean Patients with Wilson Disease
- Han-Wook Yoo, Gu-Hwan Kim, Ji-Won Chung et al.
- Clin Exp Pediatr. 2001;44(5):569-576.
-
About
Browse articles
For contributors