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

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

22 Aug 2013

Abstract excerpt

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.4) due to mutations in the nuclear gene TYMP . TP deficiency leads to plasma and tissue accumulations of thymidine and deoxyuridine which generate imbalances within the mitochondrial nucleotide pools, ultimately leading to mitochondrial...

Read the complete abstract on PubMed

Topics

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

Share to Coenzyme Q10 studies and effects
Share to Glycogen Storage Diseases and Myoclonus
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23966250
DOI: 10.1212/wnl.0b013e3182a6cb4b

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacementPMID 23966250Read ↗

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

Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation.Semantic proximity Read ↗

Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.Semantic proximity Read ↗

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

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

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathySemantic proximity Read ↗

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

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

Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.Semantic proximity Read ↗

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review.Semantic proximity Read ↗

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

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.Semantic proximity Read ↗

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