Genotype-phenotype correlation in 11 Romanian PKU families

During 15 years of screening for hyperphenylalaninaemia (HPA) in the geographical region of Transylvania in Romania, 36 children with PKU have been detected through mass screening of 292 103 newborns, while 46 cases of PKU were established through selective screening of 6071 mentally retarded patients. This results in a frequency of PKU of 1.3:10000 among… CONTINUE READING