P. Chrastina; S. Šťastná; H. Myšková; J. Zeman
Ústav dědičných metabolických poruch VFN a 1. LF UK, Prahapřednosta prof. MUDr. M. Elleder, DrSc.
Čes-slov Pediat 2003; (7): 464-467.
Tandem mass spectrometry is a new technology used in newborn screening of inborn errors of metabolism.This technology significantly increases preventive effect of newborn screening. It enables to screen simultaneouslywithin the same analytical run not only phenylketonuria but also 24 others inborn errors of metabolism froma dried blood spot. The early diagnosis and treatment are now possible by to date late or no diagnosing disorders.The overall incidence of detectable inborn errors of metabolism bymeasurement of amino acids and acylcarnitinesis 1:4500.
Key words: inborn errors of metabolism, newborn screening, tandem mass spectrometry
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