{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T09:28:25Z","timestamp":1790155705653,"version":"4.0.1"},"reference-count":43,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Waters Corporation"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1016\/j.cca.2017.01.018","type":"journal-article","created":{"date-parts":[[2017,1,18]],"date-time":"2017-01-18T06:17:19Z","timestamp":1484720239000},"page":"185-193","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":50,"special_numbering":"C","title":["Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation"],"prefix":"10.1016","volume":"466","author":[{"given":"Christiane","family":"Auray-Blais","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Lavoie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Boutin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aim\u00e9","family":"Ntwari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting-Rong","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-Kai","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2017.01.018_bb0005","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.ymgme.2005.01.007","article-title":"Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry","volume":"85","author":"Kitagawa","year":"2005","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cca.2017.01.018_bb0010","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s10545-005-5263-4","article-title":"Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease","volume":"28","author":"Mills","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.cca.2017.01.018_bb0015","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1373\/clinchem.2004.038323","article-title":"Liquid chromatography\u2013tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy","volume":"51","author":"Roddy","year":"2005","journal-title":"Clin. Chem."},{"issue":"3","key":"10.1016\/j.cca.2017.01.018_bb0020","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.ymgme.2007.10.001","article-title":"Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease","volume":"93","author":"Auray-Blais","year":"2008","journal-title":"Mol. Genet. Metab."},{"issue":"8","key":"10.1016\/j.cca.2017.01.018_bb0025","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"23\u201324","key":"10.1016\/j.cca.2017.01.018_bb0030","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1016\/j.cca.2010.07.038","article-title":"How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?","volume":"411","author":"Auray-Blais","year":"2010","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.cca.2017.01.018_bb0035","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":"Boutin","year":"2012","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.cca.2017.01.018_bb0040","doi-asserted-by":"crossref","first-page":"425","DOI":"10.7326\/0003-4819-146-6-200703200-00007","article-title":"Narrative review: Fabry disease","volume":"146","author":"Clarke","year":"2007","journal-title":"Ann. Intern. Med."},{"issue":"Suppl. 5","key":"10.1016\/j.cca.2017.01.018_bb0045","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1016\/j.jpeds.2004.01.051","article-title":"Fabry disease in childhood","volume":"144","author":"Desnick","year":"2004","journal-title":"J. Pediatr."},{"issue":"1","key":"10.1016\/j.cca.2017.01.018_bb0050","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.ijcard.2009.08.002","article-title":"Cardiac challenges in patients with Fabry disease","volume":"141","author":"Weidemann","year":"2010","journal-title":"Int. J. Cardiol."},{"issue":"3","key":"10.1016\/j.cca.2017.01.018_bb0055","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.ijcard.2008.03.007","article-title":"Onset and progression of the Anderson-Fabry disease related cardiomyopathy","volume":"130","author":"Kampmann","year":"2008","journal-title":"Int. J. Cardiol."},{"issue":"25","key":"10.1016\/j.cca.2017.01.018_bb0060","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1016\/j.jacc.2007.06.062","article-title":"Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy","volume":"50","author":"Monserrat","year":"2007","journal-title":"J. Am. Coll. Cardiol."},{"issue":"5","key":"10.1016\/j.cca.2017.01.018_bb0065","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N. Engl. J. Med."},{"issue":"12","key":"10.1016\/j.cca.2017.01.018_bb0070","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","article-title":"Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy","volume":"105","author":"Sachdev","year":"2002","journal-title":"Circulation"},{"issue":"6","key":"10.1016\/j.cca.2017.01.018_bb0075","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1111\/j.1468-1331.2005.01016.x","article-title":"Recurrent strokes in a young adult patient with Fabry's disease","volume":"12","author":"Tanaka","year":"2005","journal-title":"Eur. J. Neurol."},{"issue":"8","key":"10.1016\/j.cca.2017.01.018_bb0080","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1136\/heart.89.8.819","article-title":"Fabry disease","volume":"89","author":"Nagueh","year":"2003","journal-title":"Heart"},{"issue":"3","key":"10.1016\/j.cca.2017.01.018_bb0085","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1001\/archneur.63.3.453","article-title":"Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome","volume":"63","author":"Nance","year":"2006","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.cca.2017.01.018_bb0090","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","article-title":"Fabry's disease","volume":"372","author":"Zarate","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.cca.2017.01.018_bb0095","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"issue":"1","key":"10.1016\/j.cca.2017.01.018_bb0100","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset Fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.cca.2017.01.018_bb0105","series-title":"Taiwan Human Genetics Society Autumn Symposium","first-page":"92","article-title":"High incidence of cardiac variant of Fabry disease in Taiwanese revealed by newborn screening","author":"Chong","year":"2008"},{"issue":"3","key":"10.1016\/j.cca.2017.01.018_bb0110","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1053\/j.semperi.2015.03.005","article-title":"Newborn screening for lysosomal storage disorders","volume":"39","author":"Matern","year":"2015","journal-title":"Semin. Perinatol."},{"issue":"1","key":"10.1016\/j.cca.2017.01.018_bb0115","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.jpeds.2014.09.023","article-title":"Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri","volume":"166","author":"Hopkins","year":"2015","journal-title":"J. Pediatr."},{"issue":"2","key":"10.1016\/j.cca.2017.01.018_bb0120","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/j.jpeds.2013.01.031","article-title":"Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry","volume":"163","author":"Scott","year":"2013","journal-title":"J. Pediatr."},{"issue":"2","key":"10.1016\/j.cca.2017.01.018_bb0125","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.ymgme.2013.03.008","article-title":"Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening","volume":"109","author":"Bouwman","year":"2013","journal-title":"Mol. Genet. Metab."},{"issue":"9813","key":"10.1016\/j.cca.2017.01.018_bb0130","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0140-6736(11)61266-X","article-title":"Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria","volume":"379","author":"Mechtler","year":"2012","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.cca.2017.01.018_bb0135","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1161\/CIRCGENETICS.109.862920","article-title":"High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population","volume":"2","author":"Lin","year":"2009","journal-title":"Circ. Cardiovasc. Genet."},{"key":"10.1016\/j.cca.2017.01.018_bb0140","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.cca.2014.01.030","article-title":"Detecting multiple lysosomal storage diseases by tandem mass spectrometry-a national newborn screening program in Taiwan","volume":"431","author":"Liao","year":"2014","journal-title":"Clin. Chim. Acta"},{"issue":"5","key":"10.1016\/j.cca.2017.01.018_bb0145","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1007\/s10545-010-9166-7","article-title":"Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4+919G\u2192A)","volume":"33","author":"Lin","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"issue":"96","key":"10.1016\/j.cca.2017.01.018_bb0150","article-title":"Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4+919G>A)","volume":"9","author":"Hsu","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"issue":"6","key":"10.1016\/j.cca.2017.01.018_bb0155","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1021\/ac203433e","article-title":"Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics","volume":"84","author":"Auray-Blais","year":"2012","journal-title":"Anal. Chem."},{"issue":"3","key":"10.1016\/j.cca.2017.01.018_bb0160","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1021\/ac303033v","article-title":"Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry","volume":"85","author":"Lavoie","year":"2013","journal-title":"Anal. Chem."},{"key":"10.1016\/j.cca.2017.01.018_bb0165","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.cca.2014.08.002","article-title":"Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry","volume":"438","author":"Auray-Blais","year":"2015","journal-title":"Clin. Chim. Acta"},{"issue":"2","key":"10.1016\/j.cca.2017.01.018_bb0170","doi-asserted-by":"crossref","first-page":"280","DOI":"10.2174\/092986713804806685","article-title":"A metabolomic study reveals novel plasma lyso-Gb3 analogs as Fabry disease biomarkers","volume":"20","author":"Dupont","year":"2013","journal-title":"Curr. Med. Chem."},{"issue":"7","key":"10.1016\/j.cca.2017.01.018_bb0175","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1021\/ac404000d","article-title":"Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb3-related analogues in Fabry disease","volume":"86","author":"Boutin","year":"2014","journal-title":"Anal. Chem."},{"key":"10.1016\/j.cca.2017.01.018_bb0180","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.cca.2015.06.003","article-title":"Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma","volume":"447","author":"Ferreira","year":"2015","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.cca.2017.01.018_bb0185","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-0004.2004.00219.x","article-title":"The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy","volume":"65","author":"Whybra","year":"2004","journal-title":"Clin. Genet."},{"key":"10.1016\/j.cca.2017.01.018_bb0190","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1016\/j.echo.2005.10.005","volume":"18","author":"Lang","year":"2005","journal-title":"J. Am. Soc. Echocardiogr."},{"issue":"20","key":"10.1016\/j.cca.2017.01.018_bb0195","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1016\/0735-1097(92)90385-Z","article-title":"Left ventricular mass and body size in normotensive children and adults: assessment of allometric relations and impact of overweight","author":"de Simone","year":"1992","journal-title":"J. Am. Coll. Cardiol."},{"issue":"4","key":"10.1016\/j.cca.2017.01.018_bb0200","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.ymgme.2009.04.009","article-title":"Fabry disease urinary globotriaosylceramide\/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6months","volume":"97","author":"Barr","year":"2009","journal-title":"Mol. Genet. Metab."},{"issue":"1\u20132","key":"10.1016\/j.cca.2017.01.018_bb0205","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.cccn.2004.10.019","article-title":"Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers","volume":"353","author":"Linthorst","year":"2005","journal-title":"Clin. Chim. Acta"},{"issue":"21","key":"10.1016\/j.cca.2017.01.018_bb0210","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1016\/j.jacc.2008.02.050","article-title":"Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results","volume":"51","author":"Linthorst","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"issue":"2","key":"10.1016\/j.cca.2017.01.018_bb0215","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/j.1399-0004.2009.01345.x","article-title":"Does geographical location influence the phenotype of Fabry disease in women in Europe?","volume":"77","author":"Barba-Romero","year":"2010","journal-title":"Clin. Genet."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898117300311?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898117300311?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T01:51:41Z","timestamp":1536112301000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898117300311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":43,"alternative-id":["S0009898117300311"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2017.01.018","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2017,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2017.01.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}