{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Spiewak J"],"funding":["Great Ormond Street Biomedical Research Centre"],"pagination":["10177"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10299042"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(12)"],"pubmed_abstract":["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 (<i>n</i> = 10) and Gaucher (<i>n</i> = 4), Fabry (<i>n</i> = 10), Pompe (<i>n</i> = 2), mucopolysaccharidosis types I-VI (<i>n</i> = 52), and Niemann-Pick disease type C (NPC) (<i>n</i> = 5) patients. We observed no complete disease specificity for any of the markers tested. However, comparison among the different LSDs highlighted new applications and perspectives of the existing biomarkers. We observed elevations in g"],"journal":["International journal of molecular sciences"],"pubmed_title":["New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases."],"pmcid":["PMC10299042"],"funding_grant_id":["unknown"],"pubmed_authors":["Mills K","Papandreou A","Mills P","Spiewak J","Gissen P","Heywood WE","Doykov I","Hallqvist J","Clayton PT"],"additional_accession":[]},"is_claimable":false,"name":"New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.","description":"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 (<i>n</i> = 10) and Gaucher (<i>n</i> = 4), Fabry (<i>n</i> = 10), Pompe (<i>n</i> = 2), mucopolysaccharidosis types I-VI (<i>n</i> = 52), and Niemann-Pick disease type C (NPC) (<i>n</i> = 5) patients. We observed no complete disease specificity for any of the markers tested. However, comparison among the different LSDs highlighted new applications and perspectives of the existing biomarkers. We observed elevations in g","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jun","modification":"2025-04-18T17:26:43.449Z","creation":"2025-04-07T04:58:36.312Z"},"accession":"S-EPMC10299042","cross_references":{"pubmed":["37373322"],"doi":["10.3390/ijms241210177"]}}