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Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
Yamada, Kenji; Osawa, Yoshimitsu; Kobayashi, Hironori; Bo, Ryosuke; Mushimoto, Yuichi; Hasegawa, Yuki; Yamaguchi, Seiji; Taketani, Takeshi.
Afiliación
  • Yamada K; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.
  • Osawa Y; Department of Pediatrics, Oda Municipal Hospital, Oda, Shimane, Japan.
  • Kobayashi H; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.
  • Bo R; Department of Pediatrics, Gunma University Faculty of Medicine, Maebashi, Gunma, Japan.
  • Mushimoto Y; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.
  • Hasegawa Y; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.
  • Yamaguchi S; Department of Pediatrics, Kobe University School of Medicine, Kobe, Hyogo, Japan.
  • Taketani T; Department of Pediatrics, Shimane University Faculty of Medicine, Izumo, Shimane, Japan.
Mol Genet Metab Rep ; 33: 100940, 2022 Dec.
Article en En | MEDLINE | ID: mdl-36406819
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article