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Neurology
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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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
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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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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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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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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Genetics and Metabolism
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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