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...

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Principais autores:	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
格式:	Artigo
语言:	Inglês
出版:	BMC 2025-05-01
丛编:	Genome Medicine
主题:	Lysosomal storage disorder Newborn screening Newborn genomic screening Rare diseases
在线阅读:	https://doi.org/10.1186/s13073-025-01483-z
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