{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T10:21:24Z","timestamp":1787739684148,"version":"build-2784847793"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T00:00:00Z","timestamp":1735257600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Sphingolipidoses are rare inherited metabolic diseases belonging to lysosomal diseases. Early and accurate diagnosis is crucial for effective management and treatment. In this study, we aimed to develop a robust method to accelerate the diagnosis of these sphingolipidoses using dried blood spots and plasma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We employed high\u2010resolution mass spectrometry coupled with liquid chromatography (LC\u2010HRMS) to analyze 6 lysosphingolipids (GlcSph\/Psychosine, LysoGb3, LysoSM, LysoSM509, LysoGM1, and LysoGM2) on dried blood spots and plasma samples. The method was used to measure the lysosphingolipid levels in a group of 30 control subjects and 204 samples from patients with sphingolipidoses (61\u2009dB and 143 plasma) including Fabry, Gaucher, GM2 Gangliodosis, Niemann\u2010Pick type A\/B, and Niemann\u2010Pick type C.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The developed multiplex LC\u2010HRMS method demonstrated linearity, precision, and quantification performances particularly for GlcSph\/Psychosine and LysoGb3 on samples including controls and patients with sphingolipidoses. LysoSM showed recovery variability, wherease LysoGM1 and LysoGM2 showed higher matrix effect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study presents a high\u2010resolution mass spectrometry method along with the established cutoff values, providing a valuable tool for targeted screening, accurate diagnosis, and monitoring sphingolipidoses. Furthermore, DBS showed reliable results that lay the path to a broader adoption for screening these diseases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.25131","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T11:31:28Z","timestamp":1735299088000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Lysosphingolipid Quantitation in Plasma and Dried\u2010Blood Spots Using Targeted High\u2010Resolution Mass Spectrometry"],"prefix":"10.1002","volume":"39","author":[{"given":"Franklin","family":"Ducatez","sequence":"first","affiliation":[{"name":"Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen  Rouen France"},{"name":"Department of Neonatal Pediatrics, Intensive Care, and Neuropediatrics, Referral Center for Lysosomal Diseases Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wladimir","family":"Mauhin","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine\u2010Rheumatology Referral Center for Lysosomal Diseases, fili\u00e8re G2M, GH Diaconesses, Croix Saint Simon Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jules","family":"Ottaviani","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Plichet","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Referral Center for Lysosomal Diseases Normandie Univ, UNIROUEN, AIMS, SysMedLab, CHU Rouen  Rouen 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