Article
Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.
The Journal of pediatrics - 1 Aug 1994
Kaufman F R, Reichardt J K, Ng W G, Xu Y K, Manis F R, McBride-Chang C, Wolff J A
Abstract excerpt
This study was conducted to determine whether there is a genotype/phenotype correlation between aspects of cognitive, neurologic, and ovarian outcome in patients with galactosemia and the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. The results showed that the Q188R mutatio...
Topics
- Adolescent
- Adult
- Child
- Cognition
- Female
- Galactosemias
- Homozygote
- Humans
- Male
- Movement Disorders
- Mutation
- Primary Ovarian Insufficiency
- UTP-Hexose-1-Phosphate Uridylyltransferase