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Akaba, Yuichi; Takahashi, Satoru; Takeguchi, Ryo; Tanaka, Ryosuke; Nabatame, Shin; Saitsu, Hirotomo; Matsumoto, Naomichi

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

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  • Media type: E-Article
  • Title: Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
  • Contributor: Akaba, Yuichi; Takahashi, Satoru; Takeguchi, Ryo; Tanaka, Ryosuke; Nabatame, Shin; Saitsu, Hirotomo; Matsumoto, Naomichi
  • Published: Wiley, 2021
  • Published in: Clinical Case Reports, 9 (2021) 3, Seite 1711-1715
  • Language: English
  • DOI: 10.1002/ccr3.3883
  • ISSN: 2050-0904
  • Keywords: General Medicine
  • Origination:
  • Footnote:
  • Description: AbstractPyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders.
  • Access State: Open Access