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Volume 59(Suppl 1); Nov 2016
Case Reports
Genetics and Metabolism
A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Korean J Pediatr. 2016;59(Suppl 1):S1-S4.   Published online November 30, 2016
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Immunology
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong
Korean J Pediatr. 2016;59(Suppl 1):S5-S9.   Published online November 30, 2016
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Neurology
Chromosome 11q13 deletion syndrome
Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun
Korean J Pediatr. 2016;59(Suppl 1):S10-S13.   Published online November 30, 2016
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1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Korean J Pediatr. 2016;59(Suppl 1):S14-S18.   Published online November 30, 2016
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Genetics and Metabolism
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Korean J Pediatr. 2016;59(Suppl 1):S19-S24.   Published online November 30, 2016
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Endocrinology
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Korean J Pediatr. 2016;59(Suppl 1):S25-S28.   Published online November 30, 2016
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Neurology
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1
Hyun Hee Lee, Yun Jung Hur
Korean J Pediatr. 2016;59(Suppl 1):S29-S31.   Published online November 30, 2016
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A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Korean J Pediatr. 2016;59(Suppl 1):S32-S36.   Published online November 30, 2016
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Genetics and Metabolism
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee
Korean J Pediatr. 2016;59(Suppl 1):S37-S40.   Published online November 30, 2016
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Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee
Korean J Pediatr. 2016;59(Suppl 1):S41-S44.   Published online November 30, 2016
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Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Korean J Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016
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Immunology
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Korean J Pediatr. 2016;59(Suppl 1):S49-S52.   Published online November 30, 2016
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Familial Mediterranean fever presenting as fever of unknown origin in Korea
Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim, Kwang Chul Lee, Joo Won Lee, Jung Hwa Lee, Jae Jin Chae
Korean J Pediatr. 2016;59(Suppl 1):S53-S56.   Published online November 30, 2016
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Oncology
Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease
Hee Young Ju, Hyoung Jin Kang, Che Ry Hong, Ji Won Lee, Hyery Kim, Sang Hoon Song, Kyung-Sang Yu, In-Jin Jang, June Dong Park, Kyung Duk Park, Hee Young Shin, Joong-Gon Kim, Hyo Seop Ahn
Korean J Pediatr. 2016;59(Suppl 1):S57-S59.   Published online November 30, 2016
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Cardiology
A 2-month-old boy with hemolytic anemia and reticulocytopenia following intravenous immunoglobulin therapy for Kawasaki disease: a case report and literature review
Na Yeon Kim, Joon Hwan Kim, Jin Suk Park, Soo Hyun Kim, Yeon Kyung Cho, Dong Hyun Cha, Ki Eun Kim, Myung Suh Kang, Kyung Ah Lim, Youn Ho Sheen
Korean J Pediatr. 2016;59(Suppl 1):S60-S63.   Published online November 30, 2016
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Pulmonology
Congenital miliary tuberculosis in an 18-day-old boy
Jue Seong Lee, Chang Hoon Lim, Eunji Kim, Hyunwook Lim, Yoon Lee, Ji Tae Choung, Young Yoo
Korean J Pediatr. 2016;59(Suppl 1):S64-S67.   Published online November 30, 2016
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Gastroenterology
Acute gastritis associated with Epstein-Barr virus infection in a child
Ji Mok Kim, Chun Woo Song, Kyu Sang Song, Jae Young Kim
Korean J Pediatr. 2016;59(Suppl 1):S68-S71.   Published online November 30, 2016
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Nephrology (Genitourinary)
Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome
Da Min Choi, Jung Eun Pyun, Hyung Eun Yim, Kee Hwan Yoo, Jung Ok Shim, Eun Jung Lee, Nam Hee Won
Korean J Pediatr. 2016;59(Suppl 1):S72-S75.   Published online November 30, 2016
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Pulmonology
Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy
Mi-Hye Bae, Yun-Jin Lee, Sang Ook Nam, Hye-Young Kim, Chang Won Kim, Young Mi Kim
Korean J Pediatr. 2016;59(Suppl 1):S76-S79.   Published online November 30, 2016
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Cardiology
Anomalous right coronary artery from pulmonary artery discovered incidentally in an asymptomatic young infant
Kyu Seon Kim, Eun Young Jo, Jae Hyeon Yu, Hong Rang Kil
Korean J Pediatr. 2016;59(Suppl 1):S80-S83.   Published online November 30, 2016
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Idiopathic midaortic syndrome with malignant hypertension in 3-year-old boy
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh
Korean J Pediatr. 2016;59(Suppl 1):S84-S87.   Published online November 30, 2016
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Gastroenterology
Granular cell tumor of the esophagus in an adolescent
Ji Sun Lee, Kyung Ok Ko, Jae Woo Lim, Eun Jeong Cheon, Young Jin Kim, Jang Sin Son, Jung Min Yoon
Korean J Pediatr. 2016;59(Suppl 1):S88-S91.   Published online November 30, 2016
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Oncology
Esthesioneuroblastoma in a boy with 47, XYY karyotype
Hee Cheol Jo, Seong Wook Lee, Hyun Joo Jung, Jun Eun Park
Korean J Pediatr. 2016;59(Suppl 1):S92-S95.   Published online November 30, 2016
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Relapsed Wilms' tumor with multiple brain metastasis
Akın Akakın, Baran Yılmaz, Murat Şakir Ekşi, Özlem Yapıcıer, Türker Kılıç
Korean J Pediatr. 2016;59(Suppl 1):S96-S98.   Published online November 30, 2016
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Nephrology (Genitourinary)
Successful treatment of tubulointerstitial nephritis and uveitis with steroid and azathioprine in a 12-year-old boy
Ji Eun Kim, Se Jin Park, Ji Young Oh, Hyeon Joo Jeong, Ji Hong Kim, Jae Il Shin
Korean J Pediatr. 2016;59(Suppl 1):S99-S102.   Published online November 30, 2016
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A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Korean J Pediatr. 2016;59(Suppl 1):S103-S106.   Published online November 30, 2016
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Oncology
Unusual malignant neoplasms of ovary in children: two cases report
Ali Ghribi, Aicha Bouden, Manef Gasmi, Mourad Hamzaoui
Korean J Pediatr. 2016;59(Suppl 1):S107-S111.   Published online November 30, 2016
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Endocrinology
Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome
Mi Ji Lee, Byung Young Kim, Jae Sook Ma, Young Earl Choi, Young Ok Kim, Hwa Jin Cho, Chan Jong Kim
Korean J Pediatr. 2016;59(Suppl 1):S112-S115.   Published online November 30, 2016
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A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Korean J Pediatr. 2016;59(Suppl 1):S116-S120.   Published online November 30, 2016
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Concomitant occurrence of Turner syndrome and growth hormone deficiency
Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim
Korean J Pediatr. 2016;59(Suppl 1):S121-S124.   Published online November 30, 2016
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Neurology
A pediatric case of idiopathic Harlequin syndrome
Ju Young Kim, Moon Souk Lee, Seung Yeon Kim, Hyun Jung Kim, Soo Jin Lee, Chur Woo You, Jon Soo Kim, Ju Hyung Kang
Korean J Pediatr. 2016;59(Suppl 1):S125-S128.   Published online November 30, 2016
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Ictal sinus pause and myoclonic seizure in a child
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Korean J Pediatr. 2016;59(Suppl 1):S129-S132.   Published online November 30, 2016
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A young child of anti-NMDA receptor encephalitis presenting with epilepsia partialis continua: the first pediatric case in Korea
Eun-Hee Kim, Yeo Jin Kim, Tae-Sung Ko, Mi-Sun Yum, Jun Hwa Lee
Korean J Pediatr. 2016;59(Suppl 1):S133-S138.   Published online November 30, 2016
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A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures
Jee-Yeon Han, Mi-Sun Yum, Eun-Hee Kim, Seokho Hong, Tae-Sung Ko
Korean J Pediatr. 2016;59(Suppl 1):S139-S144.   Published online November 30, 2016
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Nephrology (Genitourinary)
Posterior reversible encephalopathy syndrome caused by presumed Takayasu arteritis
Ki Wuk Lee, Sang Taek Lee, Heeyeon Cho
Korean J Pediatr. 2016;59(Suppl 1):S145-S148.   Published online November 30, 2016
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Neurology
Type I Chiari malformation presenting orthostatic syncope who treated with decompressive surgery
Hyun-Seung Shin, Jeong A Kim, Dong-Seok Kim, Joon Soo Lee
Korean J Pediatr. 2016;59(Suppl 1):S149-S151.   Published online November 30, 2016
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Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Korean J Pediatr. 2016;59(Suppl 1):S152-S156.   Published online November 30, 2016
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Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature
Orkun Tolunay, Tamer Çelik, Ümit Çelik, Mustafa Kömür, Zeynep Tanyeli, Abdurrahman Sönmezler
Korean J Pediatr. 2016;59(Suppl 1):S161-S164.   Published online November 30, 2016
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