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Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
Yamada, Kenichiro; Aiba, Kaori; Kitaura, Yasuyuki; Kondo, Yusuke; Nomura, Noriko; Nakamura, Yuji; Fukushi, Daisuke; Murayama, Kei; Shimomura, Yoshiharu; Pitt, James; Yamaguchi, Seiji; Yokochi, Kenji; Wakamatsu, Nobuaki.
Afiliação
  • Yamada K; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
  • Aiba K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
  • Kitaura Y; Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Aichi, Japan.
  • Kondo Y; Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Aichi, Japan.
  • Nomura N; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
  • Nakamura Y; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
  • Fukushi D; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Shimomura Y; Department of Applied Molecular Biosciences, Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Aichi, Japan.
  • Pitt J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
  • Yamaguchi S; Department of Pediatrics, Faculty of Medicine, Shimane University, Izumo, Shimane, Japan.
  • Yokochi K; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
  • Wakamatsu N; Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan.
J Med Genet ; 52(10): 691-8, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26251176
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetilcisteína / Enoil-CoA Hidratase / Redes e Vias Metabólicas / Erros Inatos do Metabolismo Tipo de estudo: Guideline Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Japão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetilcisteína / Enoil-CoA Hidratase / Redes e Vias Metabólicas / Erros Inatos do Metabolismo Tipo de estudo: Guideline Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Japão