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Dried Blood Spot (DBS) Methodology Study for Biomarker Discovery in Lysosomal Storage Disease (LSD)

Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited metabolic diseases caused by mutations in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur in approximately 1 in 5000 live births and pose a lifelong risk. Therefore, to achieve th...

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Detalles Bibliográficos
Autores principales: Rus, Corina-Marcela, Di Bucchianico, Sebastiano, Cozma, Claudia, Zimmermann, Ralf, Bauer, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8231917/
https://www.ncbi.nlm.nih.gov/pubmed/34199226
http://dx.doi.org/10.3390/metabo11060382

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