Screening and diagnosis system for inherited metabolic diseases: present and future developments
10.3760/cma.j.cn113903-20210118-00052
- VernacularTitle:遗传代谢病筛查诊断系统的现状及未来发展
- Author:
Zhichun FENG
;
Wanqiao ZHANG
- From:
Chinese Journal of Perinatal Medicine
2021;24(2):81-84
- CountryChina
- Language:Chinese
-
Abstract:
This article reviews the present situation, progress, challenges, and the future developments for the screening and diagnosis of inherited metabolic disease (IMD) in both domestic and abroad in clinical practice, aiming to improve the screening and diagnosis system of IMD in China and to provide a reference for clinicians to increase the diagnosis and cure rate of treatable IMD, and promote the development of this field.