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-ViciPublished 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.