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KMID : 0376219850220040679
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Chonnam Medical Journal
1985 Volume.22 No. 4 p.679 ~ p.682
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A Pilot Study on Inherited Metabolic Disorders in High Risk Patients
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Abstract
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Although inherited metabolic disorders are encountered as rare disease category in Korea, it seems to be important to clarify incidence rate and determine possibility of neonatal screening on inborn errors of metabolism.
We have attempted to perform a urinary screening for 279 high risk patients. One of them was seemed to be homocystinuria as evidenced by positive brand test, amino acid analysis and clinical findings.
It is suggested that a further study in larger populations is needed.
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KEYWORD
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