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

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 trials a...

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Detalles Bibliográficos
Autores principales:	Mistry, P. K., Kishnani, P., Wanner, C., Dong, D., Bender, J., Batista, J. L., Foster, J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9573793/ https://www.ncbi.nlm.nih.gov/pubmed/36244992 http://dx.doi.org/10.1186/s13023-022-02517-0

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