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NTIS 바로가기대한유전성대사질환학회지 = Journal of the Korean Society of Inherited Metabolic Disease, v.20 no.2, 2020년, pp.37 - 43
이정호 (순천향대학교 부속 서울병원 소아청소년과)
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase (PAH) gene. If untreated or late treated, results in profound and irreversible mental disability. Newborn screening test identify patients with...
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