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Novel SLC13A3 Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review.

Kristen N WongLorenzo D BottoMiao HePeter R BakerAdeline L VanderverJoshua Leith Bonkowsky
Published in: Neurology. Genetics (2023)
Our case series highlights the importance of reanalysis of next-generation sequencing in the diagnostic workup.
Keyphrases
  • copy number
  • liver failure
  • respiratory failure
  • case report
  • drug induced
  • aortic dissection
  • genome wide
  • gene expression
  • extracorporeal membrane oxygenation
  • mechanical ventilation