[新生儿代谢遗传疾病筛查研究进展]。

Pediatrie (Bucharest, Romania) Pub Date : 1992-07-01

V Popescu, A Zamfirescu

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引用次数: 0

摘要

本文描述了主要的先天性代谢错误及其筛查方法。预计筛查试验以及诊断和治疗方面的最新技术进展，坚持在这一领域进行新生儿筛查至关重要，因为治疗一些特定的先天性代谢错误是实际预防性儿科的主要特点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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[Progress in neonatal screening for genetic diseases of metabolism].

The main inborn errors of metabolism are described and the methods used for their screening. The recent technical progress in the screening tests are envisaged as well as the diagnosis and treatment aspects, insisting upon the fact that the neonatal screening undertaken in this areas are of vital importance, since the treatment of a number of specific inborn errors of metabolism constitutes a main trait of actual preventive pediatrics.

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Pediatrie (Bucharest, Romania)

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