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Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Hara, Keiichi; Tajima, Go; Okada, Satoshi; Tsumura, Miyuki; Kagawa, Reiko; Shirao, Kenichiro; Ohno, Yoshinori; Yasunaga, Shin'ichiro; Ohtsubo, Motoaki; Hata, Ikue; Sakura, Nobuo; Shigematsu, Yosuke; Takihara, Yoshihiro; Kobayashi, Masao.
Afiliação
  • Hara K; Department of Pediatrics, National Hospital Organization Kure Medical Center, Kure 737-0023, Japan; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
  • Tajima G; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan. Electronic address: isleofmaple@me.com.
  • Okada S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
  • Tsumura M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
  • Kagawa R; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
  • Shirao K; Shirao Clinic of Pediatrics and Pediatric Allergy, Department of Pediatrics, Hiroshima 734-0023, Japan.
  • Ohno Y; Department of Stem Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734-8553, Japan.
  • Yasunaga S; Department of Biochemistry, Faculty of Medicine, Fukuoka University, Fukuoka 814-0180, Japan.
  • Ohtsubo M; Department of Food and Nutrition, Beppu University, Ooita 874-0501, Japan.
  • Hata I; Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui 910-1193, Japan.
  • Sakura N; Nursing House for Severe Motor and Intellectual Disabilities SUZUGAMINE, Hiroshima 731-5122, Japan.
  • Shigematsu Y; Department of Health Science, Faculty of Medical Sciences, University of Fukui, Fukui 910-1193, Japan.
  • Takihara Y; Department of Stem Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734-8553, Japan. Electronic address: takihara@hiroshima-u.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.
Mol Genet Metab ; 118(1): 9-14, 2016 May.
Article em En | MEDLINE | ID: mdl-26947917

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Acil-CoA Desidrogenase / Espectrometria de Massas em Tandem / Erros Inatos do Metabolismo Lipídico / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Japão País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Acil-CoA Desidrogenase / Espectrometria de Massas em Tandem / Erros Inatos do Metabolismo Lipídico / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Japão País de publicação: Estados Unidos