Article
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.
Journal of inherited metabolic disease - 1 Jan 1996
Romano V, Guldberg P, Güttler F, Meli C, Mollica F, Pavone L, Giovannini M, Riva E, Biasucci G, Luotti D, Palillo L, Calí F, Ceratto N, Anello G, Bosco P
Abstract excerpt
The results of the neonatal screening for phenylalanine hydroxylase (PAH) deficiency in Sicily show that its incidence is higher than previously reported for mainland Italians and that non-PKU HPA is in excess of classical and mild PKU. The latter finding suggests that a high number of non-PKU HP...
Topics
- Amino Acid Metabolism, Inborn Errors
- Child, Preschool
- Female
- Genotype
- Humans
- Infant, Newborn
- Intellectual Disability
- Male
- Neonatal Screening
- Phenotype
- Phenylalanine