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Article

Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.

Biochemical and biophysical research communications - 28 Mar 2003

Martí Ramon, Nishigaki Yutaka, Hirano Michio

Abstract excerpt

Mutations in the nuclear gene encoding thymidine phosphorylase (TP) cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive disease with mitochondrial dysfunction and mitochondrial DNA abnormalities. We have demonstrated alterations of thymidine (dThd) metaboli...

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Identifiers

PMID: 12646159
DOI: 10.1016/s0006-291x(03)00294-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12646159-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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