Schielen Peter C J I, Kemper Evelien A, Gelb Michael H
Reference Laboratory for Neonatal Screening, Centre for Infectious Diseases Research, Diagnostics and Screening, National Institute for Public Health and the Environment, 3720 BA Bilthoven, The Netherlands.
Department of Clinical Chemistry, IJsselland Hospital, 2906 ZC Capelle ad IJssel, The Netherlands.
Int J Neonatal Screen. 2017 Jun;3(2). doi: 10.3390/ijns3020006. Epub 2017 Mar 29.
Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide.
新生儿溶酶体贮积病（LSDs）筛查越来越被视为一种选择。分析性筛查方法、二线方法以及治疗可能性的发展，正在为未来几年LSDs的常规筛查铺平道路。在此，我们简要介绍当前的现状，目前可用或正在研发的筛查方法有哪些，LSDs治疗可能性的当前状况如何，哪些LSDs是筛查项目中最明显的候选对象，以及哪些LSDs已经成为全球区域或国家试点或常规筛查项目的一部分。
