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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima, Go; Hara, Keiichi; Tsumura, Miyuki; Kagawa, Reiko; Okada, Satoshi; Sakura, Nobuo; Maruyama, Shinsuke; Noguchi, Atsuko; Awaya, Tomonari; Ishige, Mika; Ishige, Nobuyuki; Musha, Ikuma; Ajihara, Sayaka; Ohtake, Akira; Naito, Etsuo; Hamada, Yusuke; Kono, Tomotaka; Asada, Tomoko; Sasai, Hideo; Fukao, Toshiyuki; Fujiki, Ryoji; Ohara, Osamu; Bo, Ryosuke; Yamada, Kenji; Kobayashi, Hironori; Hasegawa, Yuki; Yamaguchi, Seiji; Takayanagi, Masaki; Hata, Ikue; Shigematsu, Yosuke; Kobayashi, Masao.
Afiliação
  • Tajima G; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan; Division of Neonatal Screening, Research Institute, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Jap
  • Hara K; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan; Department of Pediatrics, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, 3-1 Aoyama-cho, Kure 737-0023, Japan. Electr
  • Tsumura M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. Electronic address: m055@hiroshima-u.ac.jp.
  • Kagawa R; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. Electronic address: ykagawa@ja2.so-net.ne.jp.
  • Okada S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. Electronic address: saok969@gmail.com.
  • Sakura N; Nursing House for Severe Motor and Intellectual Severities Suzugamine, 104-27 Minaga, Itsukaichi-cho, Saeki-ku, Hiroshima 731-5122, Japan. Electronic address: misasa_sakura@yahoo.co.jp.
  • Maruyama S; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan. Electronic address: s-maru@m.kufm.kagoshima-u.ac.jp.
  • Noguchi A; Department of Pediatrics, Akita University Graduate School of Medicine, 44-2 Hasunuma, Hiroomote, Akita 010-8543, Japan. Electronic address: atsuko@doc.med.akita-u.ac.jp.
  • Awaya T; Department of Pediatrics, Kyoto University Hospital, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan. Electronic address: awaya@kuhp.kyoto-u.ac.jp.
  • Ishige M; Department of Pediatrics and Child Health, Nihon University School of Medicine, 1-6 Kanda-Surugadai, Chiyoda-ku, Tokyo 101-8309, Japan. Electronic address: ishige.mika@nihon-u.ac.jp.
  • Ishige N; Division of Newborn Screening, Tokyo Health Service Association, 1-2-59 Ichiga-Sadohara, Shinjuku-ku, Tokyo 162-8460, Japan. Electronic address: novi.burgi-1579@snow.email.ne.jp.
  • Musha I; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan. Electronic address: musha@saitama-med.ac.jp.
  • Ajihara S; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan. Electronic address: sayakas@saitama-med.ac.jp.
  • Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama-cho, Saitama 350-0495, Japan. Electronic address: akira_oh@saitama-med.ac.jp.
  • Naito E; Department of Pediatrics, Japanese Red Cross Tokushima Hinomine Rehabilitation Center, 4-1 Shinbiraki, Chuden-cho, Komatsushima, Tokushima 773-0015, Japan. Electronic address: enaito@hinomine-mrc.jp.
  • Hamada Y; Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka 565-0871, Japan. Electronic address: yh5195@gmail.com.
  • Kono T; Division of Endocrinology and Metabolism, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama 330-8777, Japan. Electronic address: kono.tomotaka@scmc.pref.saitama.jp.
  • Asada T; Department of Pediatrics, Faculty of Medicine, University of Miyazaki Hospital, 5200 Kihara, Kiyotake-cho, Miyazaki 889-1692, Japan. Electronic address: tomoko_asada@med.miyazaki-u.ac.jp.
  • Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu 501-1193, Japan. Electronic address: sasai@gifu-u.ac.jp.
  • Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu 501-1193, Japan. Electronic address: toshi-gif@umin.net.
  • Fujiki R; Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan. Electronic address: fujiki@kazusa.or.jp.
  • Ohara O; Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan. Electronic address: ohara@kazusa.or.jp.
  • Bo R; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan. Electronic address: ryobo@med.kobe-u.ac.jp.
  • Yamada K; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan. Electronic address: k-yamada@med.shimane-u.ac.jp.
  • Kobayashi H; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan. Electronic address: bakki@med.shimane-u.ac.jp.
  • Hasegawa Y; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan. Electronic address: yukirin@med.shimane-u.ac.jp.
  • Yamaguchi S; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho, Izumo 693-8501, Japan. Electronic address: seijiyam@med.shimane-u.ac.jp.
  • Takayanagi M; Department of Nursing, Faculty of Health Care and Medical Sport, Teikyo Heisei University, 6-19 Chiharadai-Nishi, Ichihara 290-0192, Japan. Electronic address: m.takayanagi@thu.ac.jp.
  • Hata I; Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui 910-1193, Japan. Electronic address: ikueh@u-fukui.ac.jp.
  • Shigematsu Y; Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui 910-1193, Japan. Electronic address: yosuke@u-fukui.ac.jp.
  • Kobayashi M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. Electronic address: masak@hiroshima-u.ac.jp.
Mol Genet Metab ; 122(3): 67-75, 2017 11.
Article em En | MEDLINE | ID: mdl-28801073
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Palmitoilcarnitina / Carnitina O-Palmitoiltransferase / Triagem Neonatal / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Palmitoilcarnitina / Carnitina O-Palmitoiltransferase / Triagem Neonatal / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Evaluation_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article