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