{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:16:48Z","timestamp":1789179408717,"version":"build-2803163510"},"reference-count":34,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T00:00:00Z","timestamp":1706572800000},"content-version":"am","delay-in-days":363,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.ymgme.2022.106983","type":"journal-article","created":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T02:21:34Z","timestamp":1672021294000},"page":"106983","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis"],"prefix":"10.1016","volume":"138","author":[{"given":"Am\u00e9lie","family":"Blondel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichraf","family":"Kraoua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chlo\u00e9","family":"Marcelino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walid","family":"Khrouf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitri","family":"Schlemmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Ganne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Caillaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gorka","family":"Fern\u00e1ndez-Eulate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilhem Ben Youssef","family":"Turki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Dauriat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bonnefont-Rousselot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Nadjar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Foudil","family":"Lamari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2022.106983_bb0005","doi-asserted-by":"crossref","first-page":"6881","DOI":"10.3390\/ijms21186881","article-title":"Metabolism of glycosphingolipids and their role in the pathophysiology of lysosomal storage disorders","volume":"19","author":"Ryckman","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2022.106983_bb0010","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1152\/physrev.00033.2013","article-title":"Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration","volume":"94","author":"Schnaar","year":"2014","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.ymgme.2022.106983_bb0015","doi-asserted-by":"crossref","first-page":"3325","DOI":"10.1016\/j.jmb.2016.05.020","article-title":"Gangliosides of the vertebrate nervous system","volume":"14","author":"Schnaar","year":"2016","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ymgme.2022.106983_bb0020","doi-asserted-by":"crossref","DOI":"10.3389\/fnins.2020.572965","article-title":"Gangliosides in the brain: physiology, pathophysiology and therapeutic applications","volume":"14","author":"Sipione","year":"2020","journal-title":"Front. Neurosci."},{"key":"10.1016\/j.ymgme.2022.106983_bb0025","doi-asserted-by":"crossref","first-page":"6213","DOI":"10.3390\/ijms21176213","article-title":"GM2 Gangliosidoses: clinical features, pathophysiological aspects, and current therapies","volume":"21","author":"Leal","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2022.106983_bb0030","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/ana.25689","article-title":"Natural history of adult patients with GM2 Gangliosidosis","volume":"87","author":"Masingue","year":"2020","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2022.106983_bb0035","doi-asserted-by":"crossref","first-page":"68","DOI":"10.2174\/1566523218666180404162622","article-title":"Genetics and therapies for GM2 Gangliosidosis","volume":"18","author":"Cachon-Gonzalez","year":"2018","journal-title":"Curr Gene Ther."},{"key":"10.1016\/j.ymgme.2022.106983_bb0040","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/j.ymgme.2021.06.008","article-title":"Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis","volume":"4","author":"Rowe","year":"2021","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.106983_bb0045","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1023\/A:1005662906859","article-title":"Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis","volume":"24","author":"Salman","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2022.106983_bb0050","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1056\/NEJM197007022830104","article-title":"Tay-Sachs disease \u2014 detection of heterozygotes and homozygotes by serum hexosaminidase assay","volume":"283","author":"O\u2019Brien","year":"1970","journal-title":"NEJM."},{"key":"10.1016\/j.ymgme.2022.106983_bb0055","doi-asserted-by":"crossref","first-page":"2553","DOI":"10.3390\/cells9122553","article-title":"Optimization of enzyme essays to enhance reliability of activity measurements in leukocyte lysates for the diagnosis of metachromatic leukodystrophy and gangliosidoses","volume":"9","author":"Strobel","year":"2020","journal-title":"Cells."},{"key":"10.1016\/j.ymgme.2022.106983_bb0060","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1471-4159.1977.tb09630.x","article-title":"Sandhoff disease: ganglioside G(M2) and asialo-G(M2) accumulation in the cerebrospinalfluide","volume":"29","author":"Bernheimer","year":"1977","journal-title":"J. Neurochem."},{"key":"10.1016\/j.ymgme.2022.106983_bb0065","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1023\/A:1018552729572","article-title":"Glycosphingolipid expression in human skeletal and heart muscle assessed by immunostaining thin-layer chromatography","volume":"14","author":"M\u00fcthing","year":"1997","journal-title":"Glycoconj. J."},{"key":"10.1016\/j.ymgme.2022.106983_bb0070","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.clinbiochem.2007.12.026","article-title":"Simultaneous quantification of GM1 and GM2 gangliosides by isotope dilution tandem mass spectrometry","volume":"41","author":"Gu","year":"2008","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ymgme.2022.106983_bb0075","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ab.2014.03.014","article-title":"A new liquid chromatography\/tandem mass spectrometry method for quantification of gangliosides in human plasma","volume":"15","author":"Huang","year":"2014","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2022.106983_bb0080","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.ab.2014.04.018","article-title":"Liquid chromatography\/ electrospray ionisation-tandem mass spectrometry quantification of GM2 gangliosides in human peripheral cells and plasma","volume":"458","author":"Fuller","year":"2014","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2022.106983_bb0085","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.3390\/cells8111323","article-title":"Comprehensive profiling of surface gangliosides extracted from various cell lines by LC-MS\/MS","volume":"26","author":"Lee","year":"2019","journal-title":"Cells."},{"key":"10.1016\/j.ymgme.2022.106983_bb0090","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.biochi.2019.12.008","article-title":"Cerebrospinal fluid: profiling and fragmentation of gangliosides by ion mobility mass spectrometry","volume":"170","author":"Sarbu","year":"2020","journal-title":"Biochimie."},{"key":"10.1016\/j.ymgme.2022.106983_bb0095","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.cca.2006.10.010","article-title":"Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies","volume":"378","author":"Tsuji","year":"2007","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2022.106983_bb0100","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/0022-1759(94)90270-4","article-title":"Factors affecting the fine specificity and sensitivity of serum antiganglioside antibodies in ELISA","volume":"169","author":"Ravindranath","year":"1994","journal-title":"J. Immunol. Methods"},{"key":"10.1016\/j.ymgme.2022.106983_bb0105","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.ymgme.2022.106983_bb0110","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":"27","author":"Pettazzoni","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2022.106983_bb0115","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1373\/clinchem.2012.201053","article-title":"Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases","volume":"59","author":"Xia","year":"2013","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2022.106983_bb0120","doi-asserted-by":"crossref","DOI":"10.1007\/s10072-022-06270-x","article-title":"GM2 gangliosidosis AB variant: first case of late onset and review of the literature","author":"Ganne","year":"2022","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.ymgme.2022.106983_bb0125","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1542\/peds.68.1.106","article-title":"Accumulation of ganglioside Gm2 in cerebrospinal fluid of a patient with the variant AB of infantile GM2 gangliosidosis","volume":"68","author":"Pullarkat","year":"1981","journal-title":"Pediatrics."},{"key":"10.1016\/j.ymgme.2022.106983_bb0130","doi-asserted-by":"crossref","first-page":"2290","DOI":"10.1212\/WNL.42.12.2290","article-title":"Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases","volume":"42","author":"Kaye","year":"1992","journal-title":"Neurology."},{"key":"10.1016\/j.ymgme.2022.106983_bb0135","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0243006","article-title":"Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses","volume":"15","author":"Cavender","year":"2020","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2022.106983_bb0140","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0029074","article-title":"Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease","volume":"6","author":"Kodama","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2022.106983_bb0145","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1023\/A:1005419122018","article-title":"Glycosphingolipid degradation and animal models of GM2- gangliosidoses","volume":"21","author":"Kolter","year":"1998","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2022.106983_bb0150","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1172\/JCI111997","article-title":"Characterization of a new model of GM2-gangliosidosis (Sandhoff\u2019s disease) in Korat cats","volume":"76","author":"Neuwelt","year":"1985","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2022.106983_bb0155","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.ymgme.2010.08.006","article-title":"Tay-Sachs disease in Jacob sheep","volume":"101","author":"Torres","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2022.106983_bb0160","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/BF00688395","article-title":"GM2-gangliosidosis, AB variant: clinico-pathological study of a case","volume":"19","author":"de Baecque","year":"1975","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.ymgme.2022.106983_bb0165","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1212\/WNL.52.2.372","article-title":"GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient","volume":"15","author":"Sakuraba","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2022.106983_bb0170","first-page":"24","article-title":"Atypical juvenile presentation of G(M2) gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene","volume":"11","author":"Martins","year":"2017","journal-title":"Mol Genet Metab Rep."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719222004619?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719222004619?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:53:23Z","timestamp":1761090803000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719222004619"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["S1096719222004619"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2022.106983","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2022.106983","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"106983"}}