Title of article :
Prenatal Diagnosis of Classical Phenylketonuria in Fifteen Egyptian Families
Author/Authors :
EFFAT, LAlLA National Research Center - Department of Medical Molecular Genetics, Division of Human Genetics Genome Research, Egypt , GABER, KHALED National Research Center - Department of Prenatal Diagnosis Fetal Medicine, Egypt
Abstract :
Phenylketonuria (PKU) is one of the most common inborn errors of metabolism; if not diagnosed early and treated by special diet intervention mental retardation is the outcome.
Keywords :
Phenylketonuria , PAH gene , Mutation , PCR RFLP.
Journal title :
The Medical Journal of Cairo University
Journal title :
The Medical Journal of Cairo University
