Cargando…
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...
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 |
Ejemplares similares
-
Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease
por: Rus, Corina-Marcela, et al.
Publicado: (2023) -
Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots
por: Gelb, Michael H., et al.
Publicado: (2018) -
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases
por: Spiewak, Justyna, et al.
Publicado: (2023) -
Evaluation of Sex-Specific Gene Expression in Archived Dried Blood Spots (DBS)
por: Resau, James H., et al.
Publicado: (2012) -
Reliability of dried blood spot (DBS) cards in antibody measurement: A systematic review
por: Amini, Fahimah, et al.
Publicado: (2021)