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Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
Bo, Ryosuke; Yamada, Kenji; Kobayashi, Hironori; Jamiyan, Purevsuren; Hasegawa, Yuki; Taketani, Takeshi; Fukuda, Seiji; Hata, Ikue; Niida, Yo; Shigematsu, Yosuke; Iijima, Kazumoto; Yamaguchi, Seiji.
Affiliation
  • Bo R; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
  • Yamada K; Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
  • Kobayashi H; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
  • Jamiyan P; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
  • Hasegawa Y; Medical Genetics Laboratory, National Center for Maternal and Child Health, Ulaanbaatar, Mongolia.
  • Taketani T; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
  • Fukuda S; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
  • Hata I; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
  • Niida Y; Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
  • Shigematsu Y; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa, Japan.
  • Iijima K; Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
  • Yamaguchi S; Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
J Hum Genet ; 62(9): 809-814, 2017 Sep.
Article in En | MEDLINE | ID: mdl-28515471
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Full text: 1 Database: MEDLINE Main subject: Rhabdomyolysis / Mitochondrial Myopathies / Genetic Predisposition to Disease / Genetic Association Studies / Mitochondrial Trifunctional Protein / Lipid Metabolism, Inborn Errors / Cardiomyopathies / Nervous System Diseases Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2017 Type: Article Affiliation country: Japan
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Full text: 1 Database: MEDLINE Main subject: Rhabdomyolysis / Mitochondrial Myopathies / Genetic Predisposition to Disease / Genetic Association Studies / Mitochondrial Trifunctional Protein / Lipid Metabolism, Inborn Errors / Cardiomyopathies / Nervous System Diseases Type of study: Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2017 Type: Article Affiliation country: Japan