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