Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
Update: 2025-11-25
Description
In this JIMD Shortcast, Allyson Terrell and Katie Sapp explore the real-world challenges of newborn screening for lysosomal storage disorders, based on a survey of healthcare professionals working at the front line of implementation. The study highlights the limitations of single-tier screening, the value of multi-tier testing, and the growing importance of multidisciplinary collaboration to improve diagnostic clarity and patient outcomes.
Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management
A. Terrell, et al
https://doi.org/10.1002/jmd2.70027
Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management
A. Terrell, et al
https://doi.org/10.1002/jmd2.70027
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