Article
Genotype-phenotype correlations in phenylketonuria.
Clinica chimica acta; international journal of clinical chemistry - 30 Jul 1993
Trefz F K, Burgard P, König T, Goebel-Schreiner B, Lichter-Konecki U, Konecki D, Schmidt E, Schmidt H, Bickel H
Abstract excerpt
Genotyping of the phenylalanine hydroxylating system offers a new way of characterizing patients with phenylalanine hydroxylase (PAH) deficiency. This paper investigates the power of genotyping as a parameter for differential diagnosis and as a measure of the risk factor of brain damage in well-t...
Topics
- Child
- Child, Preschool
- DNA
- Genotype
- Humans
- Infant
- Infant, Newborn
- Intelligence Tests
- Phenotype
- Phenylalanine
- Phenylalanine Hydroxylase
- Phenylketonurias
- Prospective Studies
- Risk Factors