Neonatal screening.
Neonatal screening.
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新生儿筛查。
DOI：
10.1136/jcp.46.6.497
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发表时间：
1993
影响因子：
3.4
通讯作者：
Richard W. Erbe
中科院分区：
文献类型：
--
作者：
Inderneel Sahai;Richard W. Erbe
引言虽然坚定地基于“老式”的苯丙酮尿症，全人口血液为基础的新生儿筛查是一种技术，具有许多潜在的用途。尽管技术上可行，但大多数人从未进入一般事务，这主要反映了人们认为的成本与效益之间的平衡。由于历史原因，有一个基本的假设，即新生儿筛查应该是“盈利”的。目前，这种考虑还没有广泛应用于医学的其他分支，但随着NHS的改革，这种情况正在发生变化。对成本效益的更广泛的看法，加上治疗的进步和对遗传信息的日益重视，可能会导致对筛查的更大热情。新的测试仍在开发中，最近的仪器进步可能使筛选以前太困难或太耗时的疾病变得可行。
Introduction Though based firmly on the "old fashioned" disease of phenylketonuria, whole population blood based neonatal screening is a technique with many potential uses. Most never enter general service despite their technical feasibility, reflecting mainly the perceived balance between costs and benefits. For historical reasons there is an underlying assumption that neonatal screening should make a "profit".' Hitherto, such considerations have not been widely applied to other branches of medicine, but with the NHS reforms this is changing. A broader perspective on cost effectiveness, together with advances in treatment and the increased importance being attached to genetic information, may lead to greater enthusiasm for screening. New tests are still being developed and recent instrumental advances may make it practicable to screen for groups of disorders where this has previously been too difficult or too time consuming.
新生儿生物素酶缺乏症的筛查方法。
影响因子：
9.3
作者：
Heard,GS;SecorMcVoy,JR;Wolf,B
通讯作者：
Wolf,B