Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patien...
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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 liver transplantation in a 9-month-old EE girl. Here we report her long-te...
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Full title
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
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TN_cdi_doaj_primary_oai_doaj_org_article_4522e8f9b2db4be2bc0e579ae42707e3
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4522e8f9b2db4be2bc0e579ae42707e3
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-021-01867-5
