Newborn screening aims to detect and treat inherited metabolic disorders early to prevent disabilities. This review examines the history, methodologies (e.g., MS/MS, immunoassays), principles, current status, limitations, and future directions of newb...
Newborn screening aims to detect and treat inherited metabolic disorders early to prevent disabilities. This review examines the history, methodologies (e.g., MS/MS, immunoassays), principles, current status, limitations, and future directions of newborn screening globally and in Korea. It highlights the need for effective disease management and ethical, societal approaches.