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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Bibliographic Details
Main Authors: Corina-Marcela Rus, Sebastiano Di Bucchianico, Claudia Cozma, Ralf Zimmermann, Peter Bauer
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Metabolites
Subjects:
Online Access:https://www.mdpi.com/2218-1989/11/6/382