Radomyska B
Klinika Pediatrii, Instytut Matki i Dziecka, Kasprzaka 17a, 01-211, Warszawa, Poland.
Med Wieku Rozwoj. 2001 Jan-Mar;5(1):95-103.
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.
先天性代谢缺陷，尽管其发病率不是很高，但在婴儿死亡率和发病率的原因中发挥着越来越明显的作用。因此，早期诊断和早期治疗成为当代医学中的一个重要问题。文中讨论了新生儿群体筛查、选择性筛查和补充筛查的标准以及新技术，其中包括质谱分析法、串联质谱法。
