- A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene
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Lee EH, Ahn MS, Hwang JS, Ryu KH, Kim SJ, Kim SH
- KMID: 1781895
- J Korean Med Sci.
- 2006 Oct;21(5):800-804.
- doi: 10.3346/jkms.2006.21.5.800
Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment.... -
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- Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients
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Cheong HJ, Kim HR, Lee SS, Bae EJ, Park WI, Lee HJ, Choi HC
- KMID: 2281676
- Korean J Pediatr.
- 2009 Feb;52(2):199-204.
- doi: 10.3345/kjp.2009.52.2.199
PURPOSE: Seizure associated with fever may indicate the presence of underlying inherited metabolic diseases. The present study was performed to investigate the presence of underlying metabolic diseases in patients with... -
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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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- 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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