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[通过微生物学古思里试验对新生儿遗传性代谢疾病进行早期诊断]

[Early diagnosis of hereditary metabolic diseases in the newborn by means of microbiological Guthrie tests].

作者信息

Schmid-Rüter E

出版信息

Fortschr Med. 1978 Jun 22;96(24):1289-93.

PMID:96002
Abstract

The screening method of so-called bacterial inhibition and growth assay (Guthrie-test) is described and the number of newborn babies tested over the whole of West Germany from 1969--1974 is stated. 626 cases of PKU were detected early and tested after these dates. Only a few german laboratories are able to detect other inborn errors of metabolism such as MSUD (maple syrup urine disease), homocystinuria, histidinemia and galactosemia. The ratio of illnesses therefore can only be estimated and not stated with statistical evidence.

摘要

描述了所谓的细菌抑制和生长测定法(古思里试验)的筛查方法,并说明了1969年至1974年在西德全境接受检测的新生儿数量。在此日期之后,共检测出626例苯丙酮尿症(PKU)早期病例并进行了检测。只有少数德国实验室能够检测出其他先天性代谢缺陷,如枫糖尿症(MSUD)、同型胱氨酸尿症、组氨酸血症和半乳糖血症。因此,疾病的比例只能估计,无法提供统计学证据。

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