Article

Characterization of a Novel Pathogenic Mutation Causing Mitochondrial Neurogastrointestinal Encephalopathy

2019-04-08

Abstract excerpt

<h4>Background: </h4> Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, encoding nuclear thymidine phosphorylase (TP). MNGIE mainly presents with gastrointestinal symptoms and is mostly misdiagnosed in many patients as malabsorption syndrome, inflammatory bowel disease, anorexia nervosa, and intestinal pseudo-obstruction. Up to date,...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ef9fdeb6-ab66-5c35-a400-a53dd18adbd1
DOI: 10.21203/rs.2.4297/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Characterization of a Novel Pathogenic Mutation Causing Mitochondrial Neurogastrointestinal EncephalopathyDOI 10.21203/rs.2.4297/v1Read

Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.Semantic proximity Read

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

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.Semantic proximity Read

Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Semantic proximity Read

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.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): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.Semantic proximity Read

A Novel Mutation in an MNGIE Patient Presenting with More Prominent Neurological Symptoms than GI Symptoms.Semantic proximity Read

Nutrition Therapy for Mitochondrial Neurogastrointestinal Encephalopathy with Homozygous Mutation of the TYMP GeneSemantic proximity Read

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.Semantic proximity Read

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

Chronic intestinal pseudo-obstruction and neurological manifestations in early adulthood: considering MNGIE syndrome in differential diagnosis.Semantic proximity Read