Article
Genetic study of phenylketonuria.
The Journal of the Egyptian Public Health Association - 1 Jan 1992
Hashishe M M
Abstract excerpt
Among four hundred and eighty mentally retarded patients referred to the Human Genetics clinic, Medical Research Institute, Alexandria University, Egypt; twelve cases were found to have pku, ten cases had classical pku and 2 cases atypical pku. Genetic studies of those patients and their families revealed segregation of autosomal gene(s) that are responsible for the development of the disorder with a recurrence...
Topics
- Child
- Child, Preschool
- Consanguinity
- Female
- Follow-Up Studies
- Humans
- Infant
- Infant, Newborn
- Male
- Phenotype
- Phenylketonurias