Dellamonica C, Collombel C, Cotte J, Addis P
Clin Chem. 1983 Jan;29(1):161-3.
Neonatal screening for Duchenne-type muscular dystrophy is greatly simplified by use of a new bioluminescence procedure for creatine kinase. The blood of newborn myopathic children consistently showed increased activity. The improved method permits the analysis from a dried sample of whole blood spotted on filter paper; it shows high correlation with existing procedures and is highly specific and precise. The use of the improved method in a screening program involving 158 000 newborns is reviewed. We find a prevalence of 1/5929 living eighth-day boys.
通过使用一种用于检测肌酸激酶的新型生物发光程序，杜氏型肌营养不良的新生儿筛查得到了极大简化。患有肌病的新生儿血液中肌酸激酶活性持续升高。改进后的方法允许对滤纸上采集的全血干样进行分析；它与现有程序具有高度相关性，且具有高度特异性和精确性。本文回顾了该改进方法在一项涉及15.8万名新生儿的筛查项目中的应用。我们发现活产第八天男婴的患病率为1/5929。
