- Original Article
- Clinical Study of Benign Convulsion with Acute Gastroenteritis
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Jin Hyung Cho, Kim Eun Joo, Sung Koo Kim, Seon Hee Shin, Kon Hee Lee, Hae Sun Yoon
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Clin Exp Pediatr. 2004;47(8):855-860. Published online August 15, 2004
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Purpose : This study was performed to characterize clinical features of benign convulsions with acute gastroenteritis(CwG) in infants.
Methods : We reviewed 83 consecutive seizures in 42 patients with CwG between January 1995 and December 2003. CwG was defined as convulsions having the following two characteristics : (a) seizures accompanied with symptoms of gastroenteritis without clinical signs of dehydration or electrolyte... |
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- Case Report
- A Case of Tyrosinemia Type 1 with Cytomegalovirus Infection
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Jin Hyung Cho, Kyu Jin Shim, Sung Koo Kim, Seon Hee Shin, Kon Hee Lee, Hae Sun Yun
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Clin Exp Pediatr. 2004;47(1):111-114. Published online January 15, 2004
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Tyrosinemia type 1 is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation in the gene coding for the enzyme fumarylacetoacetate hydrolase(FAH). As a result, maleylacetoacetate(MAA) and fumarylacetoacetate(FAA) are formed. The accumulated FAA is converted into succinylacetone(SA) and succinylacetoacetate(SAA) which are excreted in urine. The first report with typical clinical and biochemical findings was presented by Sakai... |
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