- Review Article
- Treatment and management of patients with inherited metabolic diseases
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Jin-Sung Lee
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Clin Exp Pediatr. 2006;49(11):1152-1157. Published online November 15, 2006
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Inherited metabolic disease is rare disorders that show symptoms mainly in pediatric age and early treatment is important for preventing complications of the disease. Recent development in molecular and biochemical techniques help clinicians with proper diagnosis of patients, however, many of the disease still remain lack of effective therapeutic strategies. Better understanding on biochemical and molecular basis of pathogenesis of... |
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- Case Report
- A Case of Fetal Alcohol Syndrome with Persistent Pulmonary Hypertension of the Newborn
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Jin-Ha Chang, Ran Namgung, Min-Soo Park, Kook In Park, Jin-Sung Lee, Chul Lee
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Clin Exp Pediatr. 2004;47(11):1220-1224. Published online November 15, 2004
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Fetal alcohol syndrome can be suspected in infants born to mothers with a prenatal history of alcohol abuse if the child exhibits characteristic facial features, together with intrauterine growth retardation, multiple neurological abnormalities, and multiorgan defects. If only a few of the above criteria are satisfied, the term fetal alcohol effects is used. We experienced a neonate who presented with... |
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- Original Article
- Extrachromosome 21 in Korean with Down Syndrome Using DNA Haplotyping
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Jin-Sung Lee, Won Kyu Choi
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Clin Exp Pediatr. 1997;40(7):917-924. Published online July 15, 1997
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Purpose : Down syndrome, the most common single cause of mental retardation, is usually due
to meiotic nondisjunction leading to trisomy 21. In order to understand the mechanisms of meiotic
nondisjunction including parental origin of an extrachromosome and the meiotic stage of
nondisjunction, we have studied DNA polymorphisms at loci on the long arm of chromosome 21 in
36 families with free trisomy 21.
Methods... |
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- Medical Lecture Course
- Gene Therapy in Practic
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Jin-Sung Lee
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Clin Exp Pediatr. 1996;39(3):299-305. Published online March 15, 1996
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