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

Abstract Background Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-targeted gene therapy in Ethe1 −/− mouse model, we successfully attempted liv...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro, Carlo Dionisi-Vici
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2021-05-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
Liver transplantation
Ethylmalonic encephalopathy
ETHE1
Thiosulphate
Motor function
Online-Zugang:https://doi.org/10.1186/s13023-021-01867-5
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