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Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.

Giorgia OlivieriDiego MartinelliDaniela LongoChiara GrimaldiDaniela LiccardoIvano Di MeoAndrea PietrobattistaAnna SidorinaMichela SemeraroCarlo Dionisi-Vici
Published in: Orphanet journal of rare diseases (2021)
The long-term follow-up of the first EE transplanted patient demonstrates that liver transplantation stabilizes, or even improves, disease course, therefore representing a potentially elective option especially in early-diagnosed patients, such as those detected by newborn screening, before irreversible neurological damage occurs.
Keyphrases
  • newly diagnosed
  • end stage renal disease
  • case report
  • ejection fraction
  • oxidative stress
  • prognostic factors
  • peritoneal dialysis
  • patient reported outcomes
  • blood brain barrier