Article
Science, medicine and phenylketonuria.
Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994
Scriver C R
Abstract excerpt
Science addresses ignorance; medicine uses facts. The scientific approach to phenylketonuria (PKU) led to the discovery of its causes, both ultimate (allelic heterogeneity at the PAH locus) and proximate (dietary phenylalanine), the proximal phenotype (phenylalanine hydroxylase deficiency), the a...
Topics
- Alleles
- Gene Frequency
- Genetic Testing
- Humans
- Incidence
- Infant, Newborn
- Mutation
- Neonatal Screening
- Phenotype
- Phenylketonurias
- Polymorphism, Genetic