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MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive mitochondriopathy caused by loss-of-function mutations in the thymidine phosphorylase gene. The disease leads to premature death and is characterized by gastrointestinal dysmotility and cachexia, external ophthalmop...

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Detalhes bibliográficos
Main Authors: Finkenstedt, Armin, Schranz, Melanie, Bösch, Sylvia, Karall, Daniela, Bürgi, Sabine Scholl, Ensinger, Christian, Drach, Mathias, Mayr, Johannes A., Janecke, Andreas R, Vogel, Wolfgang, Nachbaur, David, Zoller, Heinz
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755566/
https://ncbi.nlm.nih.gov/pubmed/23430799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_199
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