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J-GLOBAL ID：201802216443614785   Reference number：18A0069130

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

(C16+C18:1)/C2を用いたカルニチンパルミトイルトランスフェラーゼII欠損症の新生児スクリーニング:適切な感度と低偽陽性のための付加的な指標の評価【Powered by NICT】

Author (34)： Tajima Go (Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan) ,  Tajima Go (Division of Neonatal Screening, Research Institute, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan) ,  Hara Keiichi (Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan) ,  Hara Keiichi (Department of Pediatrics, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, 3-1 Aoyama-cho, Kure 737-0023, Japan) ,  Tsumura Miyuki (Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan) ,  Kagawa Reiko (Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan) ,  Okada Satoshi (Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan) ,  Sakura Nobuo (Nursing House for Severe Motor and Intellectual Severities Suzugamine, 104-27 Minaga, Itsukaichi-cho, Saeki-ku, Hiroshima 731-5122, Japan) ,  Maruyama Shinsuke (Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan) ,  Noguchi Atsuko (Department of Pediatrics, Akita University Graduate School of Medicine, 44-2 Hasunuma, Hiroomote, Akita 010-8543, Japan) ,  Awaya Tomonari (Department of Pediatrics, Kyoto University Hospital, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan) ,  Ishige Mika (Department of Pediatrics and Child Health, Nihon University School of Medicine, 1-6 Kanda-Surugadai, Chiyoda-ku, Tokyo 101-8309, Japan) ,  Ishige Nobuyuki (Division of Newborn Screening, Tokyo Health Service Association, 1-2-59 Ichiga-Sadohara, Shinjuku-ku, Tokyo 162-8460, Japan) ,  Musha Ikuma (Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan) ,  Ajihara Sayaka (Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan) ,  Ohtake Akira (Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan) ,  Naito Etsuo (Department of Pediatrics, Japanese Red Cross Tokushima Hinomine Rehabilitation Center, 4-1 Shinbiraki, Chuden-cho, Komatsushima, Tokushima 773-0015, Japan) ,  Hamada Yusuke (Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka 565-0871, Japan) ,  Kono Tomotaka (Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama 330-8777, Japan) ,  Asada Tomoko (Department of Pediatrics, Faculty of Medicine, University of Miyazaki Hospital, 5200 Kihara, Kiyotake-cho, Miyazaki 889-1692, Japan) ,  Sasai Hideo (Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu 501-1193, Japan) ,  Fukao Toshiyuki (Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu 501-1193, Japan) ,  Fujiki Ryoji (Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan) ,  Ohara Osamu (Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan) ,  Bo Ryosuke (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan) ,  Bo Ryosuke (Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan) ,  Yamada Kenji (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan) ,  Kobayashi Hironori (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan) ,  Hasegawa Yuki (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan) ,  Yamaguchi Seiji (Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan) ,  Takayanagi Masaki (Department of Nursing, Faculty of Health Care and Medical Sport, Teikyo Heisei University, 6-19 Chiharadai-Nishi, Ichihara 290-0192, Japan) ,  Hata Ikue (Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui 910-1193, Japan) ,  Shigematsu Yosuke (Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui 910-1193, Japan) ,  Kobayashi Masao (Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan)
Material： Molecular Genetics and Metabolism  (Mol Genet Metab)
Volume： 122  Issue： 3  Page： 67-75  Publication year： 2017 
JST Material Number： E0820A  ISSN： 1096-7192  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Carnitine palmitoyltransferase...

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Thesaurus term： genetics ,  *neonate ,  Heredity ,  *carnitine O-palmitoyltransferase ,  morphology (form) ,  reliability (property) ,  lymphocyte ,  allele ,  patient ,  Mitochondria ,  heterojunction ,  *Neonatal Screening ,  fatty acid oxidation ,  *false positive ,  natural science
Semi thesaurus term： 偽陰性 , 【Automatic Indexing@JST】

Author keywords (6)： CPT II deficiency ,  Tandem mass spectrometry ,  Newborn screening ,  Japanese ,  False-negative ,  False-positive

JST classification (2)： Infectious diseases,parasitics diseases in general.  (GD01010H) ,  Diagnostics of metabolic diseases,nutritional diseases.  (GD05020U)

Terms in the title (7)： C2 ,  カルニチンパルミトイルトランスフェラーゼII欠損症 ,  新生児スクリーニング ,  感度 ,  偽陽性 ,  指標 ,  評価