- Original Article
- A Study of Homocysteine Metabolism related Neural Tube Defect
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Baeck Hee Lee
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Clin Exp Pediatr. 1998;41(1):110-114. Published online January 15, 1998
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Purpose : Methylenetetrahydrofolate reductase is an important enzyme in homocysteine metabolism.
Since the identification of the gene locus and mutation of methylenetetrahydrofolate
reductase, an increasing number of reports have suggested that elevated levels of homocysteine
were associated with various kinds of arteriovascular disease and neural tube defect. Our research
plans to investigate whether elevated levels of homocysteine are more common with neural tube
defect and... |
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- The Prevalence of A985G Mutation in Medium Chain Acyl-Coenzyme A Dehydrogenase(MCAD) Gene in Neonates Determined from Guthrie Card
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Baeck Hee Lee, Hye Won Park, Moon Soo Park, Ho Jin Park, Yong Choi, Hae Il Cheong
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Clin Exp Pediatr. 1997;40(12):1645-1650. Published online December 15, 1997
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Purpose : Medium chain acyl-CoA dehydrogenase(MCAD) deficiency is an autosomal recessive
disoder of β oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting,
convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye
syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and
survivors have significant risk of developmental disability and chronic somatic illness. However,... |
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