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Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Etienne LeveilleHernan D GonorazkyMarie-France RiouxLili-Naz HazratiJennifer A RuskeyAmanda CarnevaleDan SpiegelmanAlexandre Dionne-LaporteGuy A RouleauGrace YoonZiv Gan Or
Published in: Molecular genetics & genomic medicine (2018)
Our findings suggest that triple A syndrome should be suspected in complicated HSP patients without a known genetic cause, especially if at least one of the main triad of triple A syndrome symptoms is present.
Keyphrases
  • case report
  • end stage renal disease
  • ejection fraction
  • pulmonary embolism
  • prognostic factors
  • genome wide
  • gene expression
  • heat shock protein
  • dna methylation
  • patient reported outcomes
  • copy number