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Case Report

Isovaleric Acidemia in Siblings Diagnosed by Organic Acid Analysis

Kyung Soo Cheon, Dong Hwan Lee

Clin Exp Pediatr. 2000;43(6):828-831. Published online June 15, 2000

Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are...

A Trisomy 21 Neonate with Large Amount of Isolated Pericardial Effusion Seen on Antenatal Sonography

Kyung Soo Cheon, Hae Kyung Lee, Kyung Bae Park, Young Chang Kim

Clin Exp Pediatr. 1998;41(8):1140-1143. Published online August 15, 1998

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