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Article

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

Journal of inherited metabolic disease - 1 Dec 2011

Filosto Massimiliano, Scarpelli Mauro, Tonin Paola, Testi Silvia, Cotelli Maria Sofia, Rossi Mara, Salvi Andrea, Grottolo Alberto, Vielmi Valentina, Todeschini Alice, Fabrizi Gian Maria, Padovani Alessandro, Tomelleri Giuliano

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic options (peritoneal dialysis, allogeneic stem cell transplantation, enzyme replacement) makes it...

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Source

Identifiers

PMID: 21503690
DOI: 10.1007/s10545-011-9332-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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