MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis

Gastroenterology. 2019 Apr;156(5):1525-1527.e4. doi: 10.1053/j.gastro.2018.12.011. Epub 2018 Dec 22.
No abstract available

Keywords: Myo-Neuro-Intestinal Encephalopathy–MNGIE; Natural History; Thymidine Phosphorylase.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Early Diagnosis
  • Enzyme Replacement Therapy
  • Female
  • France
  • Genetic Predisposition to Disease
  • Humans
  • Intestinal Pseudo-Obstruction / diagnosis*
  • Intestinal Pseudo-Obstruction / genetics
  • Intestinal Pseudo-Obstruction / therapy
  • Male
  • Middle Aged
  • Muscular Dystrophy, Oculopharyngeal / diagnosis*
  • Muscular Dystrophy, Oculopharyngeal / genetics
  • Muscular Dystrophy, Oculopharyngeal / therapy
  • Mutation
  • Ophthalmoplegia / congenital
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Retrospective Studies
  • Thymidine Phosphorylase / genetics
  • Young Adult

Substances

  • TYMP protein, human
  • Thymidine Phosphorylase

Supplementary concepts

  • Visceral myopathy familial external ophthalmoplegia