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Article

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.

Clinical chemistry - 1 Jan 2004

Martí Ramon, Spinazzola Antonella, Tadesse Saba, Nishino Ichizo, Nishigaki Yutaka, Hirano Michio

Abstract excerpt

BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). The clinical manifestations of MNGIE are recognizable and homogeneous, but in the early stages, the disease is often misdiagnosed. This study assesses the reliability of biochemical assays to diagnose MNGIE. METHODS: We studied 180 patients with clinical features...

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Identifiers

PMID: 14633909
DOI: 10.1373/clinchem.2003.026179

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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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