新生儿筛查：热潮消退之后。
Newborn screening: After the thrill is gone.
作者信息
Vockley Jerry
机构信息
Department of Pediatrics, School of Medicine, University of Pittsburgh, and Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
出版信息
Mol Genet Metab. 2007 Sep-Oct;92(1-2):6-12. doi: 10.1016/j.ymgme.2007.05.012. Epub 2007 Jul 2.
Abstract
Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry has raised the stakes for specialists in metabolic medicine. New disorders and a broader clinical spectrum of disease call for new paradigms in approaching inborn errors of metabolism. The Society for Inherited Disorders has been at the forefront of advances in newborn screening for manyyears and faces new challenges in meeting new needs.
摘要
通过串联质谱法对先天性代谢缺陷进行扩大新生儿筛查，这增加了代谢医学专家的风险。新的疾病以及更广泛的疾病临床谱，要求在处理先天性代谢缺陷方面采用新的模式。遗传性疾病协会多年来一直处于新生儿筛查进展的前沿，在满足新需求方面面临新的挑战。
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