{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T03:55:10Z","timestamp":1793073310764,"version":"4.5.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 DK067859"],"award-info":[{"award-number":["R01 DK067859"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.ymgme.2023.107685","type":"journal-article","created":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T15:40:26Z","timestamp":1692027626000},"page":"107685","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results"],"prefix":"10.1016","volume":"140","author":[{"given":"Jennifer T.","family":"Saville","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zackary M.","family":"Herbst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael H.","family":"Gelb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Fuller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2023.107685_bb0005","article-title":"Prevalence of lysosomal storage disorders in Australia from 2009 to 2020","volume":"19","author":"Chin","year":"2021","journal-title":"Lancet Reg. Health West Pac."},{"key":"10.1016\/j.ymgme.2023.107685_bb0010","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3421","article-title":"The mucopolysaccharidoses","author":"Neufeld","year":"2001"},{"key":"10.1016\/j.ymgme.2023.107685_bb0015","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.1016\/j.pedneo.2022.10.001","article-title":"Current and new therapies for mucopolysaccharidoses","volume":"64","author":"Penon-Portmann","year":"2023","journal-title":"Pediatr. Neonatol."},{"key":"10.1016\/j.ymgme.2023.107685_bb0020","first-page":"53","article-title":"Laboratory diagnosis of lysosomal diseases: newborn screening to treatment","volume":"41","author":"Fuller","year":"2020","journal-title":"Clin. Biochem. Rev."},{"key":"10.1016\/j.ymgme.2023.107685_bb0025","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/s41436-018-0136-z","article-title":"Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses","volume":"21","author":"Saville","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2023.107685_bb0030","doi-asserted-by":"crossref","first-page":"69","DOI":"10.3390\/ijns6030069","article-title":"Evaluation of multiple methods for quantification of glycosaminoglycan biomarkers in newborn dried blood spots from patients with severe and attenuated mucopolysaccharidosis-I","volume":"6","author":"Herbst","year":"2020","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.ymgme.2023.107685_bb0035","doi-asserted-by":"crossref","first-page":"9","DOI":"10.3390\/ijns8010009","article-title":"Evaluation of two methods for quantification of glycosaminoglycan biomarkers in newborn dried blood spots from patients with severe and attenuated mucopolysaccharidosis type II","volume":"8","author":"Herbst","year":"2022","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.ymgme.2023.107685_bb0040","doi-asserted-by":"crossref","first-page":"107632","DOI":"10.1016\/j.ymgme.2023.107632","article-title":"Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis","author":"Herbst","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107685_bb0045","series-title":"Essentials of Glycobiology [Internet]","article-title":"Proteoglycans and sulphated glycosaminoglycans","author":"Esko","year":"2022"},{"key":"10.1016\/j.ymgme.2023.107685_bb0050","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/S0009-9120(87)80088-7","article-title":"Screening for mucopolysaccharide disorders with the Berry spot test","volume":"20","author":"Berry","year":"1987","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ymgme.2023.107685_bb0055","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1093\/clinchem\/35.7.1472","article-title":"Dimethymethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses","volume":"35","author":"de Jong","year":"1989","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2023.107685_bb0060","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.cccn.2004.03.015","article-title":"Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests","volume":"345","author":"Mabe","year":"2004","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2023.107685_bb0065","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1093\/glycob\/cwh049","article-title":"Glycosaminoglycan degradation fragments in mucopolysaccharidosis type I","volume":"14","author":"Fuller","year":"2004","journal-title":"Glycobiology"},{"key":"10.1016\/j.ymgme.2023.107685_bb0070","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ab.2010.04.002","article-title":"Determination of urinary oligosaccharides by high-performance liquid chromatography\/electrospray ionization tandem mass spectrometry: application to hunter syndrome","volume":"402","author":"Nielsen","year":"2010","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2023.107685_bb0075","doi-asserted-by":"crossref","first-page":"4534","DOI":"10.1021\/ac052083d","article-title":"Characterisation of sulphated oligosaccharides in mucopolysaccharidosis type IIIA by electrospray ionization mass spectrometry","volume":"78","author":"Mason","year":"2006","journal-title":"Anal. Chem."},{"key":"10.1016\/j.ymgme.2023.107685_bb0080","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ymgme.2004.09.004","article-title":"Prediction of neuropathology in mucopolysaccharidosis I patients","volume":"84","author":"Fuller","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107685_bb0085","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.cca.2018.11.001","article-title":"LC-MS\/MS method for simultaneous quantification of heparan sulphate and dermatan sulphate in urine by butanolysis derivatization","volume":"488","author":"Forni","year":"2019","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2023.107685_bb0090","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.aca.2016.06.054","article-title":"UPLC-MS\/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses","volume":"936","author":"Auray-Blais","year":"2016","journal-title":"Anal. Chim. Acta"},{"key":"10.1016\/j.ymgme.2023.107685_bb0095","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1021\/ac3030448","article-title":"Disaccharide analysis of glycosaminoglycans using hydrophilic interaction chromatography and mass spectrometry","volume":"85","author":"Gill","year":"2013","journal-title":"Anal. Chem."},{"key":"10.1016\/j.ymgme.2023.107685_bb0100","doi-asserted-by":"crossref","first-page":"5449","DOI":"10.3390\/ijms21155449","article-title":"High-throughput liquid chromatography-tandem mass spectrometry quantification of glycosaminoglycans as biomarkers of mucopolysaccharidosis II","volume":"21","author":"Wang","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ymgme.2023.107685_bb0105","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/BF02798420","article-title":"Polysaccharide lyases","volume":"12","author":"Linhardt","year":"1986","journal-title":"Appl. Biochem. Biotechnol."},{"key":"10.1016\/j.ymgme.2023.107685_bb0110","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.ymgme.2009.10.001","article-title":"Validation of disaccharide compositions derived from dermatan sulphate and heparan sulphate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry","volume":"99","author":"Tomatsu","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107685_bb0115","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.ymgme.2012.09.024","article-title":"Heparan sulphate and dermatan sulphate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III","volume":"107","author":"de Ruijter","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107685_bb0120","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ab.2009.01.028","article-title":"Glycan reductive isotope labelling for quantitative glycomics","volume":"387","author":"Xia","year":"2009","journal-title":"Anal. Biochem."},{"key":"10.1016\/j.ymgme.2023.107685_bb0125","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nchembio.766","article-title":"Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses","volume":"8","author":"Lawrence","year":"2012","journal-title":"Nat. Chem. Biol."},{"key":"10.1016\/j.ymgme.2023.107685_bb0130","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.4155\/bio.11.172","article-title":"Validation of an LC-MS\/MS assay for detecting relevant disaccharides from keratan sulphate as a biomarker for Morquio a syndrome","volume":"3","author":"Martell","year":"2011","journal-title":"Bioanalysis"},{"key":"10.1016\/j.ymgme.2023.107685_bb0135","first-page":"443","article-title":"Characterisation of disease-specific chondroitin sulphate nonreducing end accumulation in mucopolysaccharidosis type IVA","volume":"7","author":"Lawrence","year":"2020","journal-title":"Glycobiology"},{"key":"10.1016\/j.ymgme.2023.107685_bb0140","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2022.107107","article-title":"Signature biomarkers for diagnosis, screening and biochemical monitoring of the mucopolysaccharidosis","volume":"138","author":"Fuller","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107685_bb0145","first-page":"68","article-title":"Chondroitin sulphate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA","volume":"55","author":"Chin","year":"2020","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2023.107685_bb0150","first-page":"10","article-title":"Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting","volume":"60","author":"Fuller","year":"2021","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgme.2023.107685_bb0155","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1006\/mgme.1998.2761","article-title":"Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterisation and basis of a diagnostic test for MPS","volume":"65","author":"Byers","year":"1998","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107685_bb0160","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.ymgme.2019.05.005","article-title":"Evaluation of biomarkers for Sanfilippo syndrome","volume":"128","author":"Saville","year":"2019","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107685_bb0165","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2022.107101","article-title":"Interim results of Transpher A, a multicentre, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)","volume":"138","author":"Flanigan","year":"2023","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2023.107685_bb0170","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/j.jpeds.2019.09.036","article-title":"Newborn screening for mucopolysaccharidoses: results of a pilot study with 100 000 dried blood spots","volume":"216","author":"Scott","year":"2020","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2023.107685_bb0175","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/s13023-020-1322-z","article-title":"Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns","volume":"15","author":"Chien","year":"2020","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.ymgme.2023.107685_bb0180","doi-asserted-by":"crossref","first-page":"73","DOI":"10.3390\/ijns6030073","article-title":"Newborn screening for mucopolysaccharidosis type II in Illinois: an update","volume":"6","author":"Burton","year":"2020","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.ymgme.2023.107685_bb0185","doi-asserted-by":"crossref","first-page":"10","DOI":"10.3390\/ijns6010010","article-title":"Incorporation of second-tier biomarker testing improves the specificity of newborn screening for mucopolysaccharidosis type I","volume":"6","author":"Peck","year":"2020","journal-title":"Int. J. Neonatal. Screen"},{"key":"10.1016\/j.ymgme.2023.107685_bb0190","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1093\/glycob\/cwz045","article-title":"Updates to the symbol nomenclature for glycan guidelines","volume":"29","author":"Neelamegham","year":"2019","journal-title":"Glycobiology."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223003153?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719223003153?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T17:14:14Z","timestamp":1735233254000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719223003153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":38,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S1096719223003153"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107685","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2023.107685","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"107685"}}