- Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency
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Talebi H, Yaghini O
- KMID: 2167671
- J Audiol Otol.
- 2016 Apr;20(1):53-54.
- doi: 10.7874/jao.2016.20.1.53
Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy... -
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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: 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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- 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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