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Case Report

Published on 13 Jun 2023

Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient

in Dementia and Neurodegenerative Diseases

  • Ruoyi Ishikawa
  • Masahiro Nakamori
  • Megumi Takenaka
  • Shiro Aoki
  • Yu Yamazaki
  • Akihiro Hashiguchi
  • Hiroshi Takashima
  • Hirofumi Maruyama
Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
Frontiers in Neurology
doi 10.3389/fneur.2023.1187822
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  • 1 citation