대한유전성대사질환학회지 (Journal of The Korean Society of Inherited Metabolic disease)
- 제3권1호
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- Pages.86-93
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- 2003
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- 2287-4712(pISSN)
Tandem Mass Spectrometric Analysis for Disorders in Amino, Organic and Fatty Acid Metabolism : 2 Years of SCL Experience in Korea
- Yoon, Hye-Ran (Department of Special Biochemistry, Seoul Medical Science Institute, Seoul Clinical Laboratories (SCL)) ;
- Lee, Kyung Ryul (Department of Special Biochemistry, Seoul Medical Science Institute, Seoul Clinical Laboratories (SCL))
- 발행 : 2003.05.24
초록
Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with