Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications-Reference-Cited by-同舟云学术

Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

Published:2020-07-18 Issue:12 Volume:267 Page:3702-3710
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

D’Angelo Roberto^ORCID,Boschetti Elisa,Amore Giulia,Costa Roberta,Pugliese Alessia,Caporali Leonardo,Gramegna Laura Ludovica,Papa Valentina,Vizioli Luca,Capristo Mariantonietta,Contin Manuela,Mohamed Susan,Cenacchi Giovanna,Lodi Raffaele,Morelli Maria Cristina,Fasano Luca,Pisani Lara,Cescon Matteo,Tonon Caterina,Pinna Antonio Daniele,Dotti Maria Teresa,Sicurelli Francesco,Scarpelli Mauro,Filosto Massimiliano,Casali Carlo,Pironi Loris,Carelli Valerio,De Giorgio Roberto,Rinaldi Rita

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-020-10051-x.pdf

Reference25 articles.

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2. Hirano M, Silvestri G, Blake DM et al (1994) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44:721–727

3. Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689–692

4. Spinazzola A, Marti R, Nishino I et al (2002) Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 277:4128–4133

5. Marti R, Nishigaki Y, Hirano M (2003) Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. Biochem Biophys Res Commun 303:14–18

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