{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:54:08Z","timestamp":1790704448503,"version":"4.1.0"},"reference-count":55,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T00:00:00Z","timestamp":1501113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0181700","type":"journal-article","created":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T13:42:38Z","timestamp":1501162958000},"page":"e0181700","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":78,"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"],"prefix":"10.1371","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9569-912X","authenticated-orcid":true,"given":"Magali","family":"Pettazzoni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Pagan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie T.","family":"Vanier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Ruet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Latour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Guffon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fouilhoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique P.","family":"Germain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Vianey-Saban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Piraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Cheillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2017,7,27]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1194\/jlr.E400004-JLR200","article-title":"A comprehensive classification system for lipids","volume":"46","author":"E Fahy","year":"2005","journal-title":"J Lipid Res"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S146239940200546X","article-title":"Sphingolipid signalling: molecular basis and role in TNF-alpha-induced cell death","volume":"20","author":"S Malagarie-Cazenave","year":"2002","journal-title":"Expert Rev Mol Med"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1016\/j.bbamem.2006.05.027","article-title":"Sphingolipid metabolism diseases","volume":"1758","author":"T Kolter","year":"2006","journal-title":"Biochim Biophys Acta"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1007\/s10545-016-9947-8","article-title":"Antenatal manifestations of inborn errors of metabolism: biological diagnosis","volume":"39","author":"C Vianey-Saban","year":"2016","journal-title":"J Inherit Metab Dis"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10545-014-9794-4","article-title":"Complex lipid trafficking in Niemann-Pick disease type C","volume":"38","author":"MT Vanier","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"26","author":"JM Aerts","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1055\/s-0030-1253412","article-title":"Metachromatic leukodystrophy-an update","volume":"41","author":"V Gieselmann","year":"2010","journal-title":"Neuropediatrics"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1002\/rcm.728","article-title":"Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease","volume":"16","author":"F Boscaro","year":"2002","journal-title":"Rapid Commun Mass Spectrom"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/0006-291X(72)90381-6","article-title":"Globoid cell leukodystrophy: additional deficiency of psychosinegalactosidase","volume":"48","author":"T Miyatake","year":"1972","journal-title":"Biochem Biophys Res Commun"},{"key":"ref10","first-page":"53","article-title":"Krabbe disease: a galactosylsphingosine (psychosine) lipidosis","volume":"21","author":"L Svennerholm","year":"1980","journal-title":"J LipidRes"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.bbadis.2010.05.003","article-title":"Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease","volume":"1802","author":"SM Rombach","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1093\/hmg\/ddt468","article-title":"Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration","volume":"15","author":"T Farfel-Becker","year":"2014","journal-title":"Hum Mol Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1016\/j.bbalip.2015.04.001","article-title":"Sphingosylphosphorylcholine protects cardiomyocytes against aschemic apoptosis via lipid raft\/PTEN\/Akt1\/mTOR mediated autophagy","volume":"1851","author":"HW Yue","year":"2015","journal-title":"Biochim Biophys Acta"},{"key":"ref14","first-page":"163","article-title":"The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain","volume":"594","author":"L Choi","year":"2015","journal-title":"NeurosciLett"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1002\/jnr.23888","article-title":"Lysosphingolipids and sphingolipidoses: Psychosine in Krabbe&apos;s disease","volume":"94","author":"S Spassieva","year":"2016","journal-title":"J Neurosci Res"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1042\/bj20030613","article-title":"Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms","volume":"375","author":"E Lloyd-Evans","year":"2003","journal-title":"Biochem J"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/BF02537346","article-title":"Inhibition of cytochrome c oxidase and hemolysis caused by lysosphingolipids","volume":"23","author":"H. Igisu","year":"1988","journal-title":"Lipids"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"e79732","DOI":"10.1371\/journal.pone.0079732","article-title":"Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients","volume":"8","author":"A Rolfs","year":"2013","journal-title":"PLoS One"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.cca.2013.01.017","article-title":"Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease","volume":"419","author":"WL Chuang","year":"2013","journal-title":"Clin Chim Acta"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1007\/s10545-015-9822-z","article-title":"Measurement of psychosine in dried blood spots\u2014a possible improvement to newborn screening programs for Krabbe disease","volume":"38","author":"CT Turgeon","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"e29074","DOI":"10.1371\/journal.pone.0029074","article-title":"Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease","volume":"6","author":"T Kodama","year":"2011","journal-title":"PLoS One"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ymgme.2013.11.012","article-title":"Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients","volume":"111","author":"WL Chuang","year":"2014","journal-title":"Mol Genet Metab"},{"key":"ref23","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":"M Mirzaian","year":"2015","journal-title":"J Lipid Res"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"e114669","DOI":"10.1371\/journal.pone.0114669","article-title":"Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study","volume":"9","author":"RW Welford","year":"2014","journal-title":"PLoS One"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/s13023-015-0274-1","article-title":"A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease","volume":"10","author":"AK Giese","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"ref26","article-title":"Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS\/MS","volume":"17","author":"G Polo","year":"2016","journal-title":"Clin Chem Lab Med"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.cca.2017.01.014","article-title":"Simultaneous quantification of sphingoid bases by UPLC-ESI-MS\/MS with identical (13)C-encoded internal standards","volume":"466","author":"M Mirzaian","year":"2017","journal-title":"Clin Chim Acta"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.cca.2012.09.026","article-title":"LC-MS\/MS analysis of plasma lyso-Gb3 in Fabry disease","volume":"414","author":"M Boutin","year":"2012","journal-title":"Clin Chim Acta"},{"key":"ref29","unstructured":"NF EN ISO 15189 [Laboratoires de biologie m\u00e9dicale\u2014Exigences concernant la qualit\u00e9 et la comp\u00e9tence\u2014Laboratoires d&apos;analyses de biologie m\u00e9dicale.] 2012 <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.boutique.afnor.org\/norme\/nf-en-iso-15189\/laboratoires-de-biologie-medicale-exigences-concernant-la-qualite-et-la-competence\/article\/678634\/fa157270\" xlink:type=\"simple\">https:\/\/www.boutique.afnor.org\/norme\/nf-en-iso-15189\/laboratoires-de-biologie-medicale-exigences-concernant-la-qualite-et-la-competence\/article\/678634\/fa157270<\/ext-link>."},{"key":"ref30","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1182\/blood-2011-05-352971","article-title":"Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response","volume":"118","author":"N Dekker","year":"2011","journal-title":"Blood"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmedgenet-2014-102872","article-title":"Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease","volume":"52","author":"BE Smid","year":"2015","journal-title":"J Med Genet"},{"issue":"Suppl 2","key":"ref32","first-page":"S270","article-title":"Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease","volume":"31","author":"M Piraud","year":"2010","journal-title":"Rev Med Interne"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","article-title":"X-chromosome inactivation in female patients with Fabry disease","volume":"89","author":"L Echevarria","year":"2016","journal-title":"Clin Genet"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ymgme.2015.12.006","article-title":"Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders","volume":"117","author":"MJ Ferraz","year":"2016","journal-title":"Mol Genet Metab"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1002\/ajh.24491","article-title":"Glucosylsphingosine is a key biomarker of Gaucher disease","volume":"91","author":"V Murugesan","year":"2016","journal-title":"Am J Hematol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"25680","DOI":"10.1074\/jbc.273.40.25680","article-title":"The human chitotriosidase gene. Nature of inherited enzyme deficiency","volume":"273","author":"RG Boot","year":"1998","journal-title":"J Biol Chem"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1007\/s10545-006-0363-3","article-title":"Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A\/B and C","volume":"29","author":"M Ries","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.clinbiochem.2006.12.003","article-title":"Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease","volume":"40","author":"A Wajner","year":"2007","journal-title":"Clin Biochem"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/j.ymgme.2006.04.013","article-title":"Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy","volume":"89","author":"AC Vedder","year":"2006","journal-title":"Mol Genet Metab"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1111\/cge.12753","article-title":"Clinical, biochemical and molecular characterization of prosaposin deficiency","volume":"90","author":"M Motta","year":"2016","journal-title":"Clin Genet"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1016\/j.bbalip.2013.11.004","article-title":"Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses","volume":"1841","author":"MJ Ferraz","year":"2014","journal-title":"Biochim Biophys Acta"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1159\/000448968","article-title":"Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease","volume":"134","author":"D Oder","year":"2016","journal-title":"Nephron"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of Fabry&apos;s Disease with the Pharmacologic Chaperone Migalastat","volume":"375","author":"DP Germain","year":"2016","journal-title":"N Engl J Med"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1161\/CIRCGENETICS.113.000249","article-title":"Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease","volume":"7","author":"M Niemann","year":"2014","journal-title":"Circ Cardiovasc Genet"},{"issue":"Suppl. 1","key":"ref45","first-page":"S36","article-title":"Combined analysis of plasma oxysterol and lysosphingomyelin,for Niemann-Pick types A, B and C diagnosis","volume":"38","author":"KM Raymond","year":"2015","journal-title":"J Inher Metab Dis"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.ymgme.2016.06.004","article-title":"Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review","volume":"118","author":"MT Vanier","year":"2016","journal-title":"Mol Genet Metab"},{"key":"ref47","first-page":"30099","article-title":"Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A\/B and C diseases","volume":"17","author":"L Kuchar","year":"2017","journal-title":"Anal Biochem"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"e0140683","DOI":"10.1371\/journal.pone.0140683","article-title":"Increased Levels of Sphingosylphosphorylcholine (SPC) in Plasma of Metabolic Syndrome Patients","volume":"10","author":"N El-Najjar","year":"2015","journal-title":"PLoS One"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1093\/hmg\/10.11.1191","article-title":"A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse","volume":"10","author":"J Matsuda","year":"2001","journal-title":"Hum Mol Genet"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1007\/s004310050603","article-title":"Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease","volume":"156","author":"E Kattner","year":"1997","journal-title":"Eur J Pediatr"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/pd.967","article-title":"Investigation of lysosomal storage diseases in non immune hydrops fetalis","volume":"24","author":"MG Burin","year":"2004","journal-title":"Prenat Diagn"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ajog.2014.10.007","article-title":"Lysosomal storage disease as an etiology of non-immune hydrops","volume":"212","author":"AC Gimovsky","year":"2015","journal-title":"Am J Obstet Gynecol"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1002\/ajmg.a.32642","article-title":"The clinical spectrum of fetal Niemann-Pick type C","volume":"149A","author":"R Spiegel","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0009-8981(95)06250-5","article-title":"Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)","volume":"248","author":"M Piraud","year":"1996","journal-title":"Clin Chim Acta"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/8904_2015_516","article-title":"In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History","volume":"28","author":"E Colin","year":"2016","journal-title":"JIMD reports"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0181700","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T14:17:46Z","timestamp":1569939466000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0181700"}},"subtitle":[],"editor":[{"given":"Andrea","family":"Dardis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,7,27]]},"references-count":55,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2017,7,27]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0181700","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,27]]}}}