New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
Fabry disease
Gaucher disease
Niemann–Pick C disease
biomarker
dried blood spot
glycosphingolipid
mucopolysaccharidoses
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
15 Jun 2023
15 Jun 2023
Historique:
received:
01
05
2023
revised:
05
06
2023
accepted:
09
06
2023
medline:
29
6
2023
pubmed:
28
6
2023
entrez:
28
6
2023
Statut:
epublish
Résumé
Dried blood spots (DBSs) biomarkers are convenient for monitoring for specific lysosomal storage diseases (LSDs), but they could have relevance for other LSDs. To determine the specificity and utility of glycosphingolipidoses biomarkers against other LSDs, we applied a multiplexed lipid liquid chromatography tandem mass spectrometry assay to a DBS cohort of healthy controls (
Identifiants
pubmed: 37373322
pii: ijms241210177
doi: 10.3390/ijms241210177
pmc: PMC10299042
pii:
doi:
Substances chimiques
Glucosylceramides
0
Biomarkers
0
Protein Isoforms
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Great Ormond Street Biomedical Research Centre
ID : unknown
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