[Early diagnosis of inborn errors of metabolism. New technologies].
Inborn errors of metabolism, in spite of their not very high incidence play more and more evident role in the causes of infant's mortality and morbidity. Therefore early diagnosis and early treatment becomes an important issue in contemporary medicine. The criteria for newborn mass screening, selective screening and supplementary screening as well as the new technologies, among others mass spectrometry, Tandem MS, were discussed.
Radomyska
B
B
Klinika Pediatrii, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211, Warszawa, Poland. imid@imid.med.pl
D006801:Humans; D007231:Infant, Newborn; D013058:Mass Spectrometry / Q000379:methods; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology; D015997:Neonatal Screening / Q000379:methods*; D011044:Poland / Q000453:epidemiology; D015995:Prevalence