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Article

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

Brain : a journal of neurology - 1 Apr 2016

Dionisi-Vici Carlo, Diodato Daria, Torre Giuliano, Picca Stefano, Pariante Rosanna, Giuseppe Picardo Sergio, Di Meo Ivano, Rizzo Cristiano, Tiranti Valeria, Zeviani Massimo, De Ville De Goyet Jean

Abstract excerpt

Ethylmalonic encephalopathy is a fatal, rapidly progressive mitochondrial disorder caused by ETHE1 mutations, whose peculiar clinical and biochemical features are due to the toxic accumulation of hydrogen sulphide and of its metabolites, including thiosulphate. In mice with ethylmalonic encephalopathy, liver-targeted adeno-associated virus-mediated ETHE1 gene transfer dramatically improved both clinical course...

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Identifiers

PMID: 26917598
DOI: 10.1093/brain/aww013

Genes

ETHE1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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