[Progress in neonatal screening for genetic diseases of metabolism].
The main inborn errors of metabolism are described and the methods used for their screening. The recent technical progress in the screening tests are envisaged as well as the diagnosis and treatment aspects, insisting upon the fact that the neonatal screening undertaken in this areas are of vital importance, since the treatment of a number of specific inborn errors of metabolism constitutes a main trait of actual preventive pediatrics.
Popescu
V
V
Clinica de Pediatrie, Spital Clinic Sf. Pantelimon, Bucureşti.
Zamfirescu
A
A
D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D015997:Neonatal Screening / Q000379:methods / Q000639:trends*
Progrese în screening-ul neonatal în bolile genetice de metabolism.