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Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort.

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第一作者： Haruki,Yamano

第一单位： Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine, Bunkyo-ku, Tokyo 113-8510, Japan.

作者： Haruki,Yamano ^[1] ; Kazuhiro,Watanabe ^[2] ; Minami,Komatsu ^[2] ; Atsuko,Hashimoto ^[2] ; Yuri,Suzuki ^[1] ; Shizuka,Kirino ^[1] ; Yoko,Saito ^[1] ; Eriko,Adachi ^[1] ; Gau,Maki ^[1] ; Hisae,Nakatani ^[1] ; Atsumi,Tsuji-Hosokawa ^[1] ; Kenichi,Kashimada ^[3] ; Nobuyuki,Ishige ^[2] ; Kei,Takasawa ^[1]

作者单位： Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine, Bunkyo-ku, Tokyo 113-8510, Japan. ^[1] Tokyo Health Service Association, Newborn Screening, Tokyo, Japan. ^[2] Department of Pediatrics and Developmental Biology, Institute of Science Tokyo School of Medicine, Bunkyo-ku, Tokyo 113-8510, Japan.;Division of Endocrinology and Metabolism, National Center for Child Health and Development (NCCHD), Setagaya-ku, Tokyo 157-8535, Japan. ^[3]

关键词 11-deoxycortisol (11DOC)21-deoxycortisol (21DOC)21-hydroxylase deficiency (21OHD)LC-MS/MS false positives newborn screening (NBS)