Zöllner H, Tittelbach-Helmrich W, Bannert N, Cario W R, Pelz L, Seidlitz G, Cobet G, Wiedemann G, Zinsmeyer J, Beier L
Kinderarztl Prax. 1989 Dec;57(12):623-6.
When clinical evidence provides grounds for suspecting inborn errors of metabolism it is urgent to perform the necessary, relevant, specific laboratory investigations in good time and with a view to quality. Normally, the realization depends on individual initiatives and the use of laboratories mainly designed for pediatrics and human genetics. Consequently the results are equally a matter of chance. Nothing in this situation can be changed in principle by using the catalogue of services of the Society for Human Genetics of the GDR. Central administrative provisions are necessary to improve the present unsatisfactory situation. Proposals for regulations, division of responsibility and a graduated programme of parameters are discussed here with a view to establishing uniform procedures.
当临床证据表明有先天性代谢缺陷的嫌疑时，及时且高质量地进行必要、相关的特定实验室检查至关重要。通常情况下，这取决于个人的主动性以及主要为儿科和人类遗传学设计的实验室的使用。因此，结果同样具有偶然性。从原则上讲，利用民主德国人类遗传学会的服务目录并不能改变这种状况。需要中央行政规定来改善目前不尽人意的局面。本文讨论了关于法规、责任划分和分级参数方案的建议，以期建立统一程序。
