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The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao, Toshiyuki; Akiba, Kazuhisa; Goto, Masahiro; Kuwayama, Nobuki; Morita, Mikiko; Hori, Tomohiro; Aoyama, Yuka; Venkatesan, Rajaram; Wierenga, Rik; Moriyama, Yohsuke; Hashimoto, Takashi; Usuda, Nobuteru; Murayama, Kei; Ohtake, Akira; Hasegawa, Yuki; Shigematsu, Yosuke; Hasegawa, Yukihiro.
Afiliación
  • Fukao T; 1] Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan [2] Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan.
  • Akiba K; Department of General Pediatrics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Goto M; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Kuwayama N; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Morita M; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Hori T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Aoyama Y; Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan.
  • Venkatesan R; Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland.
  • Wierenga R; Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland.
  • Moriyama Y; Department of Anatomy and Cell Biology, Fujita Health University School of Medicine, Toyoake, Japan.
  • Hashimoto T; Department of Anatomy and Cell Biology, Fujita Health University School of Medicine, Toyoake, Japan.
  • Usuda N; Department of Anatomy and Cell Biology, Fujita Health University School of Medicine, Toyoake, Japan.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Ohtake A; 1] Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan [2] Department of Pediatrics, Saitama Medical University, Moroyama, Japan.
  • Hasegawa Y; Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan.
  • Shigematsu Y; Department of Health Science, Faculty of Medical Sciences, University of Fukui, Eiheiji-cho, Japan.
  • Hasegawa Y; Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
J Hum Genet ; 59(11): 609-14, 2014 Nov.
Article en En | MEDLINE | ID: mdl-25231369
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acetil-CoA C-Acetiltransferasa / Mutación Puntual / Errores Innatos del Metabolismo Lipídico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acetil-CoA C-Acetiltransferasa / Mutación Puntual / Errores Innatos del Metabolismo Lipídico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Reino Unido