[The clinical and molecular genetic characteristics of phenylketonuria patients in the Republic of Crimea].
The clinical and genetical characteristics of patients with phenylketonuria in the Crimean population is done in the present work. The comparison of clinical peculiarities of 28 patients, revealed by means of neonatal screening and that of 24 patients, the treatment of which was started late is presented. The prenatal diagnostics of 4 families with high phenylketonuria risk is conducted.
Afanas'eva
N A
NA
Bychkova
A M
AM
Livshits
L A
LA
Bariliak
I R
IR
D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis* / Q000178:diet therapy / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D014455:Ukraine
D010649:Phenylalanine