{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:54:46Z","timestamp":1792461286218,"version":"4.5.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020555","name":"Bambino Gesu Paediatric Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020555","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jlr.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Lipid Research"],"published-print":{"date-parts":[[2026,1]]},"DOI":"10.1016\/j.jlr.2025.100967","type":"journal-article","created":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T16:09:05Z","timestamp":1766246945000},"page":"100967","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["New multiplex LC-MS\/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases"],"prefix":"10.1016","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0358-7524","authenticated-orcid":false,"given":"Anna","family":"Sidorina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Catesini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1914-6048","authenticated-orcid":false,"given":"Federica","family":"Deodato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Boenzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiano","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0007-3379","authenticated-orcid":false,"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jlr.2025.100967_bib1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/jimd.12348","article-title":"An international classification of inherited metabolic disorders (ICIMD)","volume":"44","author":"Ferreira","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jlr.2025.100967_bib2","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.202012836","article-title":"The rapidly evolving view of lysosomal storage diseases","volume":"13","author":"Parenti","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.jlr.2025.100967_bib3","article-title":"Gene therapy for lysosomal storage diseases: current clinical trial prospects","volume":"13","author":"Kido","year":"2023","journal-title":"Front. Genet."},{"key":"10.1016\/j.jlr.2025.100967_bib4","series-title":"Inborn Metabolic Diseases, Diagnosis and Treatment","first-page":"3","article-title":"Clinical approach to inborn errors of metabolism in paediatrics","author":"Saudubray","year":"2022"},{"key":"10.1016\/j.jlr.2025.100967_bib5","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1038\/s41431-022-01119-5","article-title":"An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients","volume":"30","author":"Almeida","year":"2022","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.jlr.2025.100967_bib6","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0181700","article-title":"LC-MS\/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: a novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease","volume":"12","author":"Pettazzoni","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.jlr.2025.100967_bib7","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1515\/cclm-2018-1301","article-title":"Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study","volume":"57","author":"Polo","year":"2019","journal-title":"Clin. Chem. Lab. Med."},{"key":"10.1016\/j.jlr.2025.100967_bib8","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1038\/s41436-020-0790-9","article-title":"A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism","volume":"22","author":"Hong","year":"2020","journal-title":"Genet. Med."},{"key":"10.1016\/j.jlr.2025.100967_bib9","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1515\/cclm-2016-0340","article-title":"Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS\/MS","volume":"55","author":"Polo","year":"2017","journal-title":"Clin. Chem. Lab. Med."},{"key":"10.1016\/j.jlr.2025.100967_bib10","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1056\/NEJMc2407165","article-title":"Newborn screening and presymptomatic treatment of metachromatic leukodystrophy","volume":"391","author":"Laugwitz","year":"2024","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.jlr.2025.100967_bib11","doi-asserted-by":"crossref","DOI":"10.1002\/jcla.25131","article-title":"Lysosphingolipid quantitation in plasma and dried-blood spots using targeted high-resolution mass spectrometry","volume":"39","author":"Ducatez","year":"2025","journal-title":"J. Clin. Lab. Anal."},{"key":"10.1016\/j.jlr.2025.100967_bib12","doi-asserted-by":"crossref","first-page":"62","DOI":"10.3390\/ijns8040062","article-title":"Liquid chromatography\u2013tandem mass spectrometry in newborn screening laboratories","volume":"8","author":"Gelb","year":"2022","journal-title":"Int. J. Neonatal. Screen."},{"key":"10.1016\/j.jlr.2025.100967_bib13","doi-asserted-by":"crossref","first-page":"84","DOI":"10.3390\/ijns6040084","article-title":"Development of strategies to decrease false positive results in newborn screening","volume":"6","author":"Malvagia","year":"2020","journal-title":"Int. J. Neonatal. Screen."},{"key":"10.1016\/j.jlr.2025.100967_bib14","doi-asserted-by":"crossref","first-page":"223","DOI":"10.4155\/bio-2021-0242","article-title":"Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients","volume":"14","author":"Menkovic","year":"2022","journal-title":"Bioanalysis"},{"key":"10.1016\/j.jlr.2025.100967_bib15","doi-asserted-by":"crossref","first-page":"1516","DOI":"10.1515\/cclm-2021-0316","article-title":"Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients","volume":"59","author":"Malvagia","year":"2021","journal-title":"Clin. Chem. Lab. Med."},{"key":"10.1016\/j.jlr.2025.100967_bib16","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.cca.2018.07.007","article-title":"Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy","volume":"485","author":"Natarajan","year":"2018","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jlr.2025.100967_bib17","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.aca.2016.12.002","article-title":"Quantification of plasma sulfatides by mass spectrometry: utility for metachromatic leukodystrophy","volume":"955","author":"Saville","year":"2017","journal-title":"Anal. Chim. Acta"},{"key":"10.1016\/j.jlr.2025.100967_bib18","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1373\/clinchem.2015.245159","article-title":"Sulfatide analysis by mass spectrometry for screening of metachromatic leukodystrophy in dried blood and urine samples","volume":"62","author":"Spacil","year":"2016","journal-title":"Clin. Chem."},{"key":"10.1016\/j.jlr.2025.100967_bib19","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1111\/jnc.12341","article-title":"Levels of plasma sulfatides C18:0 and C24:1 correlate with disease status in relapsing-remitting multiple sclerosis","volume":"127","author":"Moyano","year":"2013","journal-title":"J. Neurochem."},{"key":"10.1016\/j.jlr.2025.100967_bib20","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1194\/jlr.M057232","article-title":"Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry","volume":"56","author":"Mirzaian","year":"2015","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jlr.2025.100967_bib21","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2024.108436","article-title":"Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide","volume":"142","author":"Bekri","year":"2024","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2025.100967_bib22","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/s41436-020-01017-5","article-title":"Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots","volume":"23","author":"Hong","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.jlr.2025.100967_bib23","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/jimd.12269","article-title":"Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry","volume":"44","author":"Su","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.jlr.2025.100967_bib24","article-title":"A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry","volume":"37","author":"Van Baelen","year":"2023","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.jlr.2025.100967_bib25","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.ymgme.2021.08.006","article-title":"Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry","volume":"134","author":"Mak","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2025.100967_bib26","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1016\/j.tig.2022.02.012","article-title":"Genetic disorders of cellular trafficking","volume":"38","author":"Garc\u00eda-Cazorla","year":"2022","journal-title":"Trends Genet."},{"key":"10.1016\/j.jlr.2025.100967_bib27","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1093\/brain\/awt012","article-title":"MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy","volume":"136","author":"Martinelli","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.jlr.2025.100967_bib28","series-title":"Method for the In Vitro Diagnosis of Neurogenerative Metabolic Diseases (WO 2023\/233433 A1)","author":"Dionisi Vici","year":"2023"},{"key":"10.1016\/j.jlr.2025.100967_bib29","article-title":"Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients","volume":"30","author":"Welford","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.jlr.2025.100967_bib30","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ab.2017.02.019","article-title":"Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A\/B and C diseases","volume":"525","author":"Kuchar","year":"2017","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.jlr.2025.100967_bib31","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ymgme.2017.12.431","article-title":"Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature","volume":"123","author":"Voorink-Moret","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2025.100967_bib32","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1001\/jamapediatrics.2024.6774","article-title":"Prognostication and biomarker potential of C26:0 lysophosphatidylcholine in adrenoleukodystrophy","volume":"179","author":"Billington","year":"2025","journal-title":"JAMA Pediatr."},{"key":"10.1016\/j.jlr.2025.100967_bib33","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2022.1072256","article-title":"Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring","volume":"13","author":"Bonaventura","year":"2023","journal-title":"Front. Neurol."},{"key":"10.1016\/j.jlr.2025.100967_bib34","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/s43856-024-00605-9","article-title":"Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy","volume":"4","author":"Jaspers","year":"2024","journal-title":"Commun. Med. (Lond.)"},{"key":"10.1016\/j.jlr.2025.100967_bib35","doi-asserted-by":"crossref","DOI":"10.1016\/j.jlr.2024.100516","article-title":"Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal \u03b2-oxidation disorders","volume":"65","author":"Morales-Romero","year":"2024","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jlr.2025.100967_bib36","doi-asserted-by":"crossref","first-page":"690","DOI":"10.3389\/fcell.2020.00690","article-title":"Comparison of the diagnostic performance of C26:0-Lysophosphatidylcholine and very long-chain fatty acids analysis for peroxisomal disorders","volume":"29","author":"Jaspers","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.jlr.2025.100967_bib37","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/j.cca.2012.03.026","article-title":"Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS\/MS for X-linked adrenoleukodystrophy newborn screening","volume":"413","author":"Haynes","year":"2012","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.jlr.2025.100967_bib38","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ymgme.2009.03.010","article-title":"Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography\u2013tandem mass spectrometric (LC\u2013MS\/MS) method","volume":"97","author":"Hubbard","year":"2009","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.jlr.2025.100967_bib39","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0022-2275(20)39839-4","article-title":"Krabbe disease: a galactosylsphingosine (psychosine) lipidosis","volume":"21","author":"Svennerholm","year":"1980","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.jlr.2025.100967_bib40","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1186\/s13023-025-03732-1","article-title":"Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience","volume":"20","author":"Al Khudari","year":"2025","journal-title":"Orphanet J. Rare Dis."}],"container-title":["Journal of Lipid Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022227525002305?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022227525002305?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T23:31:10Z","timestamp":1789083070000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022227525002305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["S0022227525002305"],"URL":"https:\/\/doi.org\/10.1016\/j.jlr.2025.100967","relation":{},"ISSN":["0022-2275"],"issn-type":[{"value":"0022-2275","type":"print"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"New multiplex LC-MS\/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases","name":"articletitle","label":"Article Title"},{"value":"Journal of Lipid Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jlr.2025.100967","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology.","name":"copyright","label":"Copyright"}],"article-number":"100967"}}