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NTIS 바로가기대한유전성대사질환학회지 = Journal of the Korean Society of Inherited Metabolic Disease, v.21 no.1, 2021년, pp.15 - 21
이준 (부산대학교 어린이병원 소아청소년과) , 김민지 (부산대학교 어린이병원 소아청소년과) , 유석동 (부산대학교 어린이병원 소아청소년과) , 윤주영 (부산대학교 어린이병원 소아청소년과) , 김유미 (세종충남대학교병원 소아청소년과) , 전종근 (부산대학교 어린이병원 소아청소년과)
Purpose: Urea cycle disorder (UCD) is an inherited inborn error of metabolism, acting on each step of urea cycle that cause various phenotypes. The purpose of the study was to investigate the long-term clinical consequences in different groups of UCD to characterize it. Methods: Twenty-two patients ...
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