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Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
Vatanavicharn, Nithiwat; Yamada, Kenji; Aoyama, Yuka; Fukao, Toshiyuki; Densupsoontorn, Narumon; Jirapinyo, Pipop; Sathienkijkanchai, Achara; Yamaguchi, Seiji; Wasant, Pornswan.
Afiliação
  • Vatanavicharn N; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Electronic address: nithiwat_v@hotmail.com.
  • Yamada K; Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan.
  • Aoyama Y; Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan.
  • Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Densupsoontorn N; Division of Nutrition, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Jirapinyo P; Division of Nutrition, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Sathienkijkanchai A; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Yamaguchi S; Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan.
  • Wasant P; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Brain Dev ; 37(7): 698-703, 2015 Aug.
Article em En | MEDLINE | ID: mdl-25459972
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Base de dados: MEDLINE Assunto principal: Bezafibrato / Carnitina Aciltransferases / Doenças Mitocondriais / Erros Inatos do Metabolismo Lipídico / Mutação / Hipolipemiantes Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Dev Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles Base de dados: MEDLINE Assunto principal: Bezafibrato / Carnitina Aciltransferases / Doenças Mitocondriais / Erros Inatos do Metabolismo Lipídico / Mutação / Hipolipemiantes Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Dev Ano de publicação: 2015 Tipo de documento: Article