- Development of orphan drugs for rare diseases
- Han-Wook Yoo
- Clin Exp Pediatr. 2024;67(7):315-327.
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- Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome
- Kyo Jin Jo, Yoo Mi Kim, Ju Young Yoon et al.
- Clin Exp Pediatr. 2019;62(7):274-280.
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- 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.
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- 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.
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- Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care
- Jin-Ho Choi, Han-Wook Yoo
- Clin Exp Pediatr. 2017;60(2):31-37.
-
- Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene
- Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim et al.
- Clin Exp Pediatr. 2016;59(6):280-284.
-
- 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.
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- 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.
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- Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools
- Eun Lee, Mi-Sun Yum, Hae-Won Choi et al.
- Clin Exp Pediatr. 2012;55(10):397-402.
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- 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.
-
- Endocrine dysfunction after bone marrow transplantation during childhood and adolescence
- Hye Young Jin, Jin-Ho Choi, Ho-Joon Im et al.
- Clin Exp Pediatr. 2010;53(3):420-427.
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- 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.
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- Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria
- Eun Hye Lee, Jung Min Ko, Jae-Min Kim et al.
- Clin Exp Pediatr. 2008;51(9):964-970.
-
- 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.
-
- Diagnosis of inherited metabolic disorders based on their diverse clinical features and laboratory tests
- Han-Wook Yoo
- Clin Exp Pediatr. 2006;49(11):1140-1151.
-
- A Case of Tay-Sachs Disease in Korea Diagnosed by Enzyme Assay and DNA Analysis
- Hyun-Seung Jin, Jin-Ho Choi, Han-Wook Yoo
- Clin Exp Pediatr. 2004;47(12):1360-1363.
-
- 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.
-
- Fanconi-Bickel Syndrome Presented with Diabetes
Mellitus and Galactosemia : Identification of a
Novel Mutation in the GLUT2 Gene
- You-Jeong Kim, Sun-Hee Rim, Young-Lim Shin et al.
- Clin Exp Pediatr. 2001;44(10):1201-1205.
-
- 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.
-
- A Case of Korean Patient with Nonketotic Hyperglycinemia; Diagnosed Based on CSF Amino Acid Analysis and Magnetic Resonance Spectroscopy
- Kie-Young Park, Ai-Rhan Kim, Ki-Soo Kim et al.
- Clin Exp Pediatr. 2000;43(7):993-999.
-
- Characterization of Molecular Defects in Korean Families with Inherited Ornithine Transcarbamylase Deficiency and Their Genotype-Phenotype Correlations
- Han-Wook Yoo
- Clin Exp Pediatr. 1999;42(7):900-910.
-
- A Case of Ornithine Transcarbamylase Deficiency Successfully Treated with Protein Restriction and Living Related Liver Transplantation
- Bong Seong Kim, Kyung Mo Kim, Han-Wook Yoo et al.
- Clin Exp Pediatr. 1999;42(6):868-873.
-
- Two Cases of Citrullinemia Presented with Strokes
- Hyun-Mi Kim, Jae-Bok Kim, Jung-Ho Kim et al.
- Clin Exp Pediatr. 1999;42(3):437-441.
-
- A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement
- Jae-Bok Kim, Han-Wook Yoo
- Clin Exp Pediatr. 1998;41(11):1590-1595.
-
- Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber(MERRF) Syndrome
- Tae-Sung Ko, Sang-Ahm Lee, Gheeyoung Choe et al.
- Clin Exp Pediatr. 1998;41(7):941-952.
-
- Abnormalities of Hypothalamic-Pituitary MR Imaging and Pituitary Function in Patients with Growth Hormone Deficiency
- Hun-Gy Kim, Han-Wook Yoo
- Clin Exp Pediatr. 1998;41(6):791-798.
-
- Molecular Genetic Screening for the SRY(Sex Determining Region of the Y chromosme) Gene in Turner Syndrome Patients
- Jung-Yeon Shim, Han-Wook Yoo
- Clin Exp Pediatr. 1996;39(7):915-923.
-
- Molecular Biological Approaches in Clinical Medicine
- Han-Wook Yoo
- Clin Exp Pediatr. 1996;39(1):1-11.
-
- The Changes of Thyroid Function Tests and TSH Receptor Antibody Levels During Antithyroid Drug Therapy of Graves Disease in Children
- Jeong-Ho Kim, Eun-Young Cho, Han-Wook Yoo
- Clin Exp Pediatr. 1995;38(10):1404-1410.
-
- Etiological Classification of Mentally Retarded Children Enrolled in
a Special Educational Institution
- Seon-Kyeong Yoo, Han-Wook Yoo
- Clin Exp Pediatr. 1994;37(10):1437-1448.
-
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