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Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.
Ago, Yasuhiko; Otsuka, Hiroki; Sasai, Hideo; Abdelkreem, Elsayed; Nakama, Mina; Aoyama, Yuka; Matsumoto, Hideki; Fujiki, Ryoji; Ohara, Osamu; Akiyama, Kazumasa; Fukui, Kaori; Watanabe, Yoriko; Nakajima, Yoko; Ohnishi, Hidenori; Ito, Tetsuya; Fukao, Toshiyuki.
Afiliação
  • Ago Y; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
  • Otsuka H; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
  • Sasai H; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
  • Abdelkreem E; Clinical Genetics Center, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
  • Nakama M; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag 82524, Egypt.
  • Aoyama Y; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
  • Matsumoto H; Clinical Genetics Center, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
  • Fujiki R; Department of Biomedical Sciences, College of Life and Health Sciences, Education and Training Center of Medical Technology, Chubu University, Kasugai, Aichi 487-8501, Japan.
  • Ohara O; Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501-1194, Japan.
  • Akiyama K; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan.
  • Fukui K; Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292-0818, Japan.
  • Watanabe Y; Akiyama Children's Clinic, Kitami, Hokkaido 090-0051, Japan.
  • Nakajima Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
  • Ohnishi H; Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
  • Ito T; Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Fukuoka 830-0011, Japan.
  • Fukao T; Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Aichi 470-1192, Japan.
Exp Ther Med ; 20(5): 39, 2020 Nov.
Article em En | MEDLINE | ID: mdl-32952630
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article