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699 articles

Case Report

Published on 29 Jun 2023

Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report

in Dementia and Neurodegenerative Diseases

  • Ekaterina Kazakova
  • JosĂ© Alberto TĂ©llez-MartĂ­nez
  • Leonardo Flores-Lagunes
  • Ana Luisa Sosa-Ortiz
  • Karol Carillo-Sánchez
  • Carolina Molina-Garay
  • Carlos Alberto González-DomĂ­nguez
  • Marco Jimenez-Olivares
  • Francisca Fernandez-Valverde
  • Edwin Steven Vargas-Cañas
Frontiers in Neurology
doi 10.3389/fneur.2023.878446
  • 3,282 views

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
Frontiers in Neurology
doi 10.3389/fneur.2023.1187822
  • 3,013 views
  • 1 citation