{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T21:04:15Z","timestamp":1790370255395,"version":"4.1.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ymgme.2026.110238","type":"journal-article","created":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T06:55:40Z","timestamp":1787122540000},"page":"110238","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease"],"prefix":"10.1016","volume":"149","author":[{"given":"Antoine","family":"Rivaux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Guffon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Pagan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana\u00efs","family":"Brassier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Gu\u00e9rin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Pasquier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youssef","family":"Sekkach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babacar","family":"Ndiaye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fouilhoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Acquaviva-Bourdain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Ruet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Pettazzoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2026.110238_bb0005","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.ymgme.2016.12.008","article-title":"Types A and B Niemann-Pick disease","volume":"120","author":"Schuchman","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110238_bb0010","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s13023-017-0572-x","article-title":"Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)","volume":"12","author":"McGovern","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2026.110238_bb0015","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/s13023-023-02686-6","article-title":"Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A\/B)","volume":"18","author":"Geberhiwot","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2026.110238_bb0020","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.beem.2014.08.004","article-title":"Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening","volume":"29","author":"Kingma","year":"2015","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.ymgme.2026.110238_bb0025","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ejim.2022.11.028","article-title":"Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: an algorithm to support the diagnosis","volume":"108","author":"Cappellini","year":"2023","journal-title":"Eur. J. Intern. Med."},{"key":"10.1016\/j.ymgme.2026.110238_bb0030","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.3390\/jcm13051487","article-title":"Gaucher disease or acid sphingomyelinase deficiency? The importance of differential diagnosis","volume":"13","author":"Giacomarra","year":"2024","journal-title":"J. Clin. Med."},{"key":"10.1016\/j.ymgme.2026.110238_bb0035","first-page":"330","article-title":"Acid sphingomyelinase deficiency and Gaucher disease in adults: similarities and differences in two macrophage storage disorders","volume":"65","author":"Eskes","year":"2024","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2026.110238_bb0040","article-title":"Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): exploring the potential indicators of diagnosis using quantitative and qualitative data","volume":"38","author":"Doerr","year":"2024","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2026.110238_bb0045","article-title":"Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: a case report","volume":"41","author":"Van Baelen","year":"2024","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2026.110238_bb0050","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2023.107563","article-title":"Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have Gaucher disease","volume":"139","author":"Oliva","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110238_bb0055","doi-asserted-by":"crossref","DOI":"10.1097\/HC9.0000000000000621","article-title":"Acid sphingomyelinase deficiency and Gaucher disease: underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals","volume":"9","author":"Mistry","year":"2025","journal-title":"Hepatol. Commun."},{"key":"10.1016\/j.ymgme.2026.110238_bb0060","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1186\/s13023-023-02797-0","article-title":"Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency","volume":"18","author":"Di Rocco","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2026.110238_bb0065","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2024.1518344","article-title":"Case report: two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency","volume":"12","author":"Deodato","year":"2025","journal-title":"Front. Pediatr."},{"key":"10.1016\/j.ymgme.2026.110238_bb0070","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1186\/s13023-023-02983-0","article-title":"Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial","volume":"18","author":"Wasserstein","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2026.110238_bb0075","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2025.109081","article-title":"Acid sphingomyelinase deficiency: laboratory diagnosis, genetic and epidemiologic aspects of a 50-year French cohort","volume":"145","author":"Froissart","year":"2025","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110238_bb0080","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.ymgme.2016.05.015","article-title":"Pilot study of newborn screening for six lysosomal storage diseases using tandem mass spectrometry","volume":"118","author":"Elliott","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2026.110238_bb0085","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s10545-017-0126-3","article-title":"Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders","volume":"41","author":"Piraud","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2026.110238_bb0090","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.ymgme.2026.110238_bb0095","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.cca.2014.07.010","article-title":"A new simple and rapid LC-ESI-MS\/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease","volume":"437","author":"Boenzi","year":"2014","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2026.110238_bb0100","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1023\/A:1005367328003","article-title":"Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase","volume":"20","author":"Young","year":"1997","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2026.110238_bb0105","first-page":"977","article-title":"Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers)","volume":"86","author":"Giraldo","year":"2001","journal-title":"Haematologica"},{"key":"10.1016\/j.ymgme.2026.110238_bb0110","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1016\/j.clinbiochem.2014.06.005","article-title":"Validity of \u03b2-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients","volume":"47","author":"Stroppiano","year":"2014","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ymgme.2026.110238_bb0115","article-title":"Addition of Lyso-Gb1 to enzyme activity to first-tier test for Gaucher in DBS improves diagnostic accuracy and reduces patient recall rate","volume":"578","author":"Vel\u00e1squez Rivas","year":"2026","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2026.110238_bb0120","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.3390\/ijms23031627","article-title":"Gaucher disease diagnosis using Lyso-Gb1 on dry blood spot samples: time to change the paradigm?","volume":"23","author":"Dinur","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2026.110238_bb0125","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13023-018-0785-7","article-title":"Consensus clinical management guidelines for Niemann-Pick disease type C","volume":"13","author":"Geberhiwot","year":"2018","journal-title":"Orphanet J. Rare Dis."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226005214?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719226005214?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T20:38:16Z","timestamp":1790368696000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719226005214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":25,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S1096719226005214"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.110238","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2026.110238","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"110238"}}