Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].

Casopis lekaru ceskych - 1 Jan 2006

Honzík T, Tesarová M, Hansíková H, Krijt J, Benes P, Zámecník J, Wenchich L, Zeman J

Abstract excerpt

BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a disorder with autosomal recessive inheritance caused by mutations in the gene encoding thymidine phosphorylase (TP). TP deficiency results in imbalance of mitochondrial pool of nucleotides leading secondary to multiple deletions and depletion of mitochondrial DNA (mtDNA) and impairment of oxidative phosphorylation system. The disease...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Gastrointestinal Diseases
Share to Mitochondrial Encephalomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Thymidine Phosphorylase

Source

Identifiers

PMID: 16995425

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].PMID 16995425Read ↗

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.Semantic proximity Read ↗

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalopathy in an Indian family with possible manifesting carriers of heterozygous TYMP mutation.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.Semantic proximity Read ↗

Thymidine phosphorylase mutations cause instability of mitochondrial DNA.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.Semantic proximity Read ↗

[MNGIE (mitochondrial neurogastrointestinal encephalomyopathy)].Semantic proximity Read ↗

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.Semantic proximity Read ↗

Mitochondrial neurogastrointestinal encephalomyopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.