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Seventeen Years Experience on Inborn Errors of Metabolism A Study for Future Development of Inborn Errors of Metabolism in Korea.

Journal of the Korean Pediatric Society 1990;33(8):1031-1036.
Published online August 31, 1990.
Seventeen Years Experience on Inborn Errors of Metabolism A Study for Future Development of Inborn Errors of Metabolism in Korea.
Hong Jin Lee1, Hyung Ro Moon1
1Department of Pediatrics, College of Medicine, Hallym University
2Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
선천성 대사장애질환에 대한 17년간의 경험* - 앞으로의 발전방향을 찾기위한 고찰 -
이홍진1, 문형로1
1한림대학교 의과대학 소아과학교실
2서울대학교 의과대학 소아과학교실
Received: 20 April 1989   • Accepted: 12 September 1989
Abstract
In Korea, the study of inborn errors of metabolism is very primitive. Even the incidence and prevalence of the disease of inborn errors of metabolism are not known in Korea. We have done this study of inborn errors of metabolism in Korea and concluded that: 1) The varieties and incidences of inborn errors of metabolism in Korea might be relatively diverse and high. 2) Nation wide mandatory neonatal screening test should be established and the screening for Wilson disease and adrenogenital syndrome should be included in that project in view of the relatively high inci- dences of these diseases in Korea. 3) To improve the diagnosis the cooperation among university services through and assistance for tech- nical and sharing of facilities.
Key Words: Inborn Errors of Metabolism, Neonatal Screening Test, Korea


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