Screening and diagnosis system for inherited metabolic diseases: present and future developments / 中华围产医学杂志

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.