Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China

Abstract Background Lysosomal storage disorders (LSDs) have a relatively high incidence among rare diseases and can lead to severe consequences if not treated promptly. However, many countries and regions have not included these disorders in their newborn screening programs, resulting in missed earl...

Full description

Saved in:
Bibliographic Details
Main Authors: Xin Wang, Yun Sun, Xian-Wei Guan, Yan-Yun Wang, Dong-Yang Hong, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Tao jiang, Zheng-feng Xu
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Medicine
Subjects:
Online Access:https://doi.org/10.1186/s13073-025-01483-z
Tags: Add Tag
No Tags, Be the first to tag this record!