Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Newborn Screening Test for the Inherited Metabolic Disease

유전성 대사이상 질환에 대한 신생아 선별검사

  • Sun Min Lee (Pusan National University School of Medicine, Pusan National University Yangsan Hospital)
  • 이선민 (부산대학교 의과대학, 양산부산대병원 진단검사의학과)
  • Published : 2024.12.31
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Abstract

Newborn screening aims to detect and treat inherited metabolic disorders early to prevent disabilities. This review examines the history, methodologies (e.g., MS/MS, immunoassays), principles, current status, limitations, and future directions of newborn screening globally and in Korea. It highlights the need for effective disease management and ethical, societal approaches.

Keywords

References

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