{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T06:08:43Z","timestamp":1790662123245,"version":"4.1.0"},"reference-count":43,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T00:00:00Z","timestamp":1512086400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,10,3]],"date-time":"2017-10-03T00:00:00Z","timestamp":1506988800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"R\u00e9gion Normandie"},{"name":"Labex SynOrg","award":["ANR-11-LABX-0029"],"award-info":[{"award-number":["ANR-11-LABX-0029"]}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["ERDF 31708"],"award-info":[{"award-number":["ERDF 31708"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Sanofi-Genzyme"},{"DOI":"10.13039\/100007343","name":"Shire","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007343","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Vaincre les Maladies Lysosomales"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1016\/j.cca.2017.09.024","type":"journal-article","created":{"date-parts":[[2017,10,2]],"date-time":"2017-10-02T06:30:32Z","timestamp":1506925832000},"page":"7-14","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"special_numbering":"C","title":["Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling"],"prefix":"10.1016","volume":"475","author":[{"given":"Abdellah","family":"Tebani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Schmitz-Afonso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenaig","family":"Abily-Donval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"H\u00e9ron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2341-6514","authenticated-orcid":false,"given":"Monique","family":"Piraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Ausseil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anais","family":"Brassier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"De Lonlay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farid","family":"Zerimech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric M.","family":"Vaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno J.","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Marret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2406-5664","authenticated-orcid":false,"given":"Carlos","family":"Afonso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"9","key":"10.1016\/j.cca.2017.09.024_bb0005","doi-asserted-by":"crossref","DOI":"10.3390\/ijms17091555","article-title":"Omics-based strategies in precision medicine: toward a paradigm shift in inborn errors of metabolism investigations","volume":"17","author":"Tebani","year":"2016","journal-title":"Int. J. Mol. Sci."},{"issue":"11","key":"10.1016\/j.cca.2017.09.024_bb0010","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1080\/004982599238047","article-title":"\u2018Metabonomics\u2019: understanding the metabolic responses of living systems to pathophysiological stimuli via multivariate statistical analysis of biological NMR spectroscopic data","volume":"29","author":"Nicholson","year":"1999","journal-title":"Xenobiotica"},{"key":"10.1016\/j.cca.2017.09.024_bb0015","doi-asserted-by":"crossref","DOI":"10.1080\/23808993.2016.1273067","article-title":"The role of metabolomics in precision medicine","author":"Bekri","year":"2016","journal-title":"Expert Rev. Precis. Med. Drug Dev."},{"issue":"5","key":"10.1016\/j.cca.2017.09.024_bb0020","doi-asserted-by":"crossref","first-page":"2424","DOI":"10.1021\/ac203200x","article-title":"Intra- and interlaboratory reproducibility of ultra performance liquid chromatography-time-of-flight mass spectrometry for urinary metabolic profiling","volume":"84","author":"Benton","year":"2012","journal-title":"Anal. Chem."},{"issue":"7","key":"10.1016\/j.cca.2017.09.024_bb0025","doi-asserted-by":"crossref","DOI":"10.3390\/ijms17071167","article-title":"Clinical metabolomics: the new metabolic window for inborn errors of metabolism investigations in the post-genomic era","volume":"17","author":"Tebani","year":"2016","journal-title":"Int. J. Mol. Sci."},{"issue":"1","key":"10.1016\/j.cca.2017.09.024_bb0030","first-page":"19","article-title":"Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistry","volume":"30","author":"Pitt","year":"2009","journal-title":"Clin. Biochem. Rev."},{"issue":"2","key":"10.1016\/j.cca.2017.09.024_bb0035","first-page":"57","article-title":"Newborn screening","volume":"31","author":"Pitt","year":"2010","journal-title":"Clin. Biochem. Rev."},{"issue":"3","key":"10.1016\/j.cca.2017.09.024_bb0040","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1373\/clinchem.2012.189936","article-title":"High-throughput assay of 9 lysosomal enzymes for newborn screening","volume":"59","author":"Spacil","year":"2013","journal-title":"Clin. Chem."},{"key":"10.1016\/j.cca.2017.09.024_bb0045","article-title":"Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome","author":"Tebani","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"issue":"4","key":"10.1016\/j.cca.2017.09.024_bb0050","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/j.bbamcr.2008.12.001","article-title":"Lysosomal disorders: from storage to cellular damage","volume":"1793","author":"Ballabio","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"issue":"3","key":"10.1016\/j.cca.2017.09.024_bb0055","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1136\/adc.72.3.263","article-title":"The mucopolysaccharidoses: a clinical review and guide to management","volume":"72","author":"Wraith","year":"1995","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.cca.2017.09.024_bb0060","series-title":"The metabolic and molecular basis of inherited disease","first-page":"3421","article-title":"The mucopolysaccharidoses","author":"Neufeld EF","year":"2001"},{"issue":"6","key":"10.1016\/j.cca.2017.09.024_bb0065","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1007\/s10545-005-0112-z","article-title":"Cumulative incidence rates of the mucopolysaccharidoses in Germany","volume":"28","author":"Baehner","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.cca.2017.09.024_bb0070","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1146\/annurev-med-122313-085916","article-title":"Lysosomal storage diseases: from pathophysiology to therapy","volume":"66","author":"Parenti","year":"2015","journal-title":"Annu. Rev. Med."},{"issue":"5","key":"10.1016\/j.cca.2017.09.024_bb0075","doi-asserted-by":"crossref","DOI":"10.3390\/ijms17050743","article-title":"Clinical and molecular characterization of patients with mucopolysaccharidosis type I in an Algerian series","volume":"17","author":"Tebani","year":"2016","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.cca.2017.09.024_bb0080","series-title":"Clinical Characteristics of MPS I Patients in the MPS I Registry","author":"OA","year":"2007"},{"key":"10.1016\/j.cca.2017.09.024_bb0085","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.aca.2016.02.011","article-title":"Optimization of a liquid chromatography ion mobility-mass spectrometry method for untargeted metabolomics using experimental design and multivariate data analysis","volume":"913","author":"Tebani","year":"2016","journal-title":"Anal. Chim. Acta"},{"issue":"6","key":"10.1016\/j.cca.2017.09.024_bb0090","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1093\/clinchem\/38.6.803","article-title":"Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue","volume":"38","author":"de Jong","year":"1992","journal-title":"Clin. Chem."},{"issue":"9","key":"10.1016\/j.cca.2017.09.024_bb0095","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0138622","article-title":"A multiplex assay for the diagnosis of mucopolysaccharidoses and mucolipidoses","volume":"10","author":"Langereis","year":"2015","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.cca.2017.09.024_bb0100","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s11306-016-1026-5","article-title":"Normalization and integration of large-scale metabolomics data using support vector regression","volume":"12","author":"Shen","year":"2016","journal-title":"Metabolomics"},{"issue":"5","key":"10.1016\/j.cca.2017.09.024_bb0105","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/cem.2581","article-title":"A chemometrics toolbox based on projections and latent variables","volume":"28","author":"Eriksson","year":"2014","journal-title":"J. Chemom."},{"key":"10.1016\/j.cca.2017.09.024_bb0110","doi-asserted-by":"crossref","DOI":"10.1002\/cem.2627","article-title":"Variable influence on projection (VIP) for orthogonal projections to latent structures (OPLS)","author":"Galindo-Prieto","year":"2014","journal-title":"J. Chemom."},{"key":"10.1016\/j.cca.2017.09.024_bb0115","doi-asserted-by":"crossref","DOI":"10.1093\/bioinformatics\/btx140","article-title":"MetCCS Predictor: a web server for predicting collision cross-section values of metabolites in ion mobility-mass spectrometry based metabolomics","author":"Zhou","year":"2017","journal-title":"Bioinformatics (Oxford, England)"},{"key":"10.1016\/j.cca.2017.09.024_bb0120","article-title":"Advances in metabolome information retrieval: turning chemistry into biology. Part II: biological information recovery","author":"Tebani","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.cca.2017.09.024_bb0125","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1003123","article-title":"Predicting network activity from high throughput metabolomics","volume":"9","author":"Li","year":"2013","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.cca.2017.09.024_bb0130","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkv380","article-title":"MetaboAnalyst 3.0-making metabolomics more meaningful","author":"Xia","year":"2015","journal-title":"Nucleic Acids Res."},{"issue":"2","key":"10.1016\/j.cca.2017.09.024_bb0135","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.ymgme.2015.08.001","article-title":"Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network","volume":"117","author":"Salazar","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cca.2017.09.024_bb0140","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.cca.2017.01.007","article-title":"Oxidative damage and redox in lysosomal storage disorders: biochemical markers","volume":"466","author":"Donida","year":"2017","journal-title":"Clin. Chim. Acta"},{"issue":"43","key":"10.1016\/j.cca.2017.09.024_bb0145","doi-asserted-by":"crossref","first-page":"29684","DOI":"10.1074\/jbc.M109.020818","article-title":"Metabolic adaptations to interrupted glycosaminoglycan recycling","volume":"284","author":"Woloszynek","year":"2009","journal-title":"J. Biol. Chem."},{"issue":"1","key":"10.1016\/j.cca.2017.09.024_bb0150","article-title":"Crosstalk between 2 organelles: lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C","volume":"3","author":"Pshezhetsky","year":"2015","journal-title":"Rare Dis. (Austin, Tex.)"},{"issue":"1\u20132","key":"10.1016\/j.cca.2017.09.024_bb0155","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.cca.2007.09.008","article-title":"Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy","volume":"387","author":"Pereira","year":"2008","journal-title":"Clin. Chim. Acta"},{"issue":"9","key":"10.1016\/j.cca.2017.09.024_bb0160","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1016\/j.bbadis.2016.05.021","article-title":"Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation","volume":"1862","author":"Jacques","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"issue":"4","key":"10.1016\/j.cca.2017.09.024_bb0165","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s10565-014-9284-3","article-title":"Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy","volume":"30","author":"Negretto","year":"2014","journal-title":"Cell Biol. Toxicol."},{"issue":"2","key":"10.1016\/j.cca.2017.09.024_bb0170","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.mrgentox.2011.02.005","article-title":"DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy","volume":"721","author":"Filippon","year":"2011","journal-title":"Mutat. Res."},{"issue":"5","key":"10.1016\/j.cca.2017.09.024_bb0175","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1016\/j.bbadis.2015.02.004","article-title":"Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy","volume":"1852","author":"Donida","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"issue":"2","key":"10.1016\/j.cca.2017.09.024_bb0180","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ymgme.2011.02.016","article-title":"Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy","volume":"103","author":"Filippon","year":"2011","journal-title":"Mol. Genet. Metab."},{"issue":"1","key":"10.1016\/j.cca.2017.09.024_bb0185","doi-asserted-by":"crossref","first-page":"112","DOI":"10.2353\/ajpath.2008.070564","article-title":"Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases","volume":"172","author":"Simonaro","year":"2008","journal-title":"Am. J. Pathol."},{"issue":"4","key":"10.1016\/j.cca.2017.09.024_bb0190","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1007\/s10571-008-9335-5","article-title":"Alterations in oxidative markers in the cerebellum and peripheral organs in MPS I mice","volume":"29","author":"Reolon","year":"2009","journal-title":"Cell. Mol. Neurobiol."},{"issue":"12","key":"10.1016\/j.cca.2017.09.024_bb0195","doi-asserted-by":"crossref","first-page":"2579s","DOI":"10.3945\/jn.115.226621","article-title":"Arginine metabolism revisited","volume":"146","author":"Morris","year":"2016","journal-title":"J. Nutr."},{"issue":"1","key":"10.1016\/j.cca.2017.09.024_bb0200","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.cell.2016.02.035","article-title":"The CASTOR proteins are arginine sensors for the mTORC1 pathway","volume":"165","author":"Chantranupong","year":"2016","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.cca.2017.09.024_bb0205","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/j.cmet.2016.03.013","article-title":"Amino acid sensing by mTORC1: intracellular transporters mark the spot","volume":"23","author":"Goberdhan","year":"2016","journal-title":"Cell Metab."},{"issue":"5","key":"10.1016\/j.cca.2017.09.024_bb0210","doi-asserted-by":"crossref","first-page":"589","DOI":"10.4161\/auto.6.5.11943","article-title":"Autophagosome maturation is impaired in Fabry disease","volume":"6","author":"Ch\u00e9vrier","year":"2010","journal-title":"Autophagy"},{"issue":"43","key":"10.1016\/j.cca.2017.09.024_bb0215","doi-asserted-by":"crossref","first-page":"29684","DOI":"10.1074\/jbc.M109.020818","article-title":"Metabolic adaptations to interrupted glycosaminoglycan recycling","volume":"284","author":"Woloszynek","year":"2009","journal-title":"J. Biol. Chem."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898117303807?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898117303807?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,10,18]],"date-time":"2020-10-18T15:22:51Z","timestamp":1603034571000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898117303807"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12]]},"references-count":43,"alternative-id":["S0009898117303807"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2017.09.024","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2017,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2017.09.024","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}