Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME

Known as: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION, MNGIE, Thymidine Phosphorylase Deficiency 
A rare, autosomal recessive inherited disorder caused by mutation in the TYMP gene. It affects several parts of the body, particularly the… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2009
Review
2009
Thymidine phosphorylase (TP), also known as “platelet‐derived endothelial cell growth factor” (PD‐ECGF), is an enzyme, which is… Expand
Is this relevant?
Review
2005
Review
2005
Depletion and multiple deletions of mitochondrial DNA (mtDNA) have been associated with a number of autosomal disorders… Expand
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by loss-of-function… Expand
  • table 1
  • table 2
  • table 3
  • table 4
  • table 5
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with multiple… Expand
  • figure 3
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Autosomal recessive progressive external ophthalmoplegia (PEO) is one clinical disorder associated with multiple mitochondrial… Expand
  • figure 1
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Mitochondrialneurogastrointestinalencephalomyopathy (MNGIE) is an autosomal recessive human disease due to mutations in the… Expand
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe… Expand
Is this relevant?
Highly Cited
1999
Highly Cited
1999
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease associated with multiple… Expand
Is this relevant?
Highly Cited
1994
Highly Cited
1994
We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome… Expand
  • table 1
  • table 4
Is this relevant?
Highly Cited
1990
Highly Cited
1990
We describe 5 individuals (from three separate families) with a progressive neurological disorder characterized by sensorimotor… Expand
Is this relevant?