- A Case of Partial Trisomy 9p Syndrome with 3-Ketothiolase Deficiency
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Na HJ, Lim HC, Lim BK, Lee HY, Cha BH
- KMID: 2329596
- J Korean Child Neurol Soc.
- 2006 Nov;14(2):375-379.
Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly... -
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- Urine Organic Acid Analysis of Patients with Febrile Seizures
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Shin DS, Lee GJ, Lee KJ, Park WI, Bae EJ, Lee HG
- KMID: 1655418
- Korean J Pediatr.
- 2004 Nov;47(11):1205-1209.
PURPOSE: Febrile seizure, the most common seizure disorder in children between 6 months and 5 years of age, is mostly caused by viral infections, except severe CNS infection. It can... -
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- Organic acidemias in Korea
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Lee HJ
- KMID: 2168073
- Hanyang Med Rev.
- 2005 Aug;25(3):49-64.
Since we started organic acid analysis in July 1997, we have collected data about organic acidemias in Korea. The data presented herein constitute our 3 years experience in organic acid... -
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- Organic Acidemias in Korea: Three Years Experience of Organic Acid Analysis
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Choi YK, Kim ES, Bae EJ, Park WI, Lee KJ, Lee HJ
- KMID: 2335686
- J Korean Pediatr Soc.
- 2002 Nov;45(11):1346-1358.
PURPOSE: We have done this retrospective study to know the relative incidences and clinical manifestations of organic acidopathies in Korea. METHODS: The results of quantitative organic acid analysis of 1,125... -
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- Organic acidemias in Korea: Eight years experience of organic acid analysis
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Bang JS, Lim SH, Lee KH, Bae EJ, Park WI, Lee HJ
- KMID: 2278583
- Korean J Pediatr.
- 2006 Mar;49(3):258-267.
- doi: 10.3345/kjp.2006.49.3.258
PURPOSE: We have done this retrospective study to know the relative incidence and clinical manifestations of organic acidopathies in Korea during 8 years(from Jul. 1997 to May 2005). This results... -
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