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The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Osawa, Yoshimitsu; Kobayashi, Hironori; Tajima, Go; Hara, Keiichi; Yamada, Kenji; Fukuda, Seiji; Hasegawa, Yuki; Aisaki, Junko; Yuasa, Miori; Hata, Ikue; Okada, Satoshi; Shigematsu, Yosuke; Sasai, Hideo; Fukao, Toshiyuki; Takizawa, Takumi; Yamaguchi, Seiji; Taketani, Takeshi.
Afiliação
  • Osawa Y; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan; Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan. Electronic address: y-osawa@gunma-u.ac.jp.
  • Kobayashi H; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan; Division of Laboratory, Shimane University Hospital, Izumo, Shimane, Japan. Electronic address: bakki@med.shimane-u.ac.jp.
  • Tajima G; Division of Neonatal Screening, National Center for Child Health and Development, Setagaya, Tokyo, Japan. Electronic address: tajima-g@ncchd.go.jp.
  • Hara K; Department of Pediatrics, The NHO Kure Medical Center, Kure, Hiroshima, Japan. Electronic address: hara.keiichi.dv@mail.hosp.go.jp.
  • Yamada K; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. Electronic address: k-yamada@med.shimane-u.ac.jp.
  • Fukuda S; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. Electronic address: sfukuda@med.shimane-u.ac.jp.
  • Hasegawa Y; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. Electronic address: yukirin@med.shimane-u.ac.jp.
  • Aisaki J; Division of Neonatal Screening, National Center for Child Health and Development, Setagaya, Tokyo, Japan. Electronic address: aisaki-j@ncchd.go.jp.
  • Yuasa M; Department of Pediatrics, University of Fukui, Eiheiji-cho, Fukui, Japan. Electronic address: miori@u-fukui.ac.jp.
  • Hata I; Department of Pediatrics, University of Fukui, Eiheiji-cho, Fukui, Japan. Electronic address: ikueh@u-fukui.ac.jp.
  • Okada S; Department of Pediatrics, Hiroshima University Graduate School of Biochemical and Health Sciences, Hiroshima, Japan. Electronic address: sokada@hiroshima-u.ac.jp.
  • Shigematsu Y; Department of Pediatrics, Uji-Tokushukai Medical Center, Uji, Kyoto, Japan.
  • Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address: sasai@gifu-u.ac.jp.
  • Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Takizawa T; Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan. Electronic address: takizawt@gunma-u.ac.jp.
  • Yamaguchi S; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. Electronic address: seijiyam@med.shimane-u.ac.jp.
  • Taketani T; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan. Electronic address: ttaketani@med.shimane-u.ac.jp.
Mol Genet Metab ; 136(1): 74-79, 2022 05.
Article em En | MEDLINE | ID: mdl-35400565
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article