Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.

Implementation of the nationwide newborn screening program was associated with a reduction in the average age at diagnosis from 4.3 years to 0.2 years and facilitated timely initiation of disease-specific interventions, including enzyme replacement therapy and hematopoietic stem cell transplantation.

In addition, the program facilitated the identification of novel mucopolysaccharidoses-related variants in the Taiwanese population, contributing to improved diagnostic interpretation and long-term disease monitoring.