Rare lysosomal disease registries: lessons learned over three decades of real-world evidence

Rare lysosomal disease registries: lessons learned over three decades of real-world evidence

Abstract Lysosomal storage disorders (LSD) are rare diseases, caused by inherited deficiencies of lysosomal enzymes/transporters, that affect 1 in 7000 to 1 in 8000 newborns. Individuals with LSDs face long diagnostic journeys during which debilitating and life-threatening events can occur. Clinical...

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Bibliographic Details
Main Authors: P. K. Mistry, P. Kishnani, C. Wanner, D. Dong, J. Bender, J. L. Batista, J. Foster
Format: Article
Language:English
Published: BMC 2022-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Lysosomal storage disorders
Rare disease
Registries
Enzyme replacement therapy
Gaucher
Fabry
Online Access:https://doi.org/10.1186/s13023-022-02517-0

Internet

https://doi.org/10.1186/s13023-022-02517-0

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