{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:05:45Z","timestamp":1791993945367,"version":"4.4.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,10,19]],"date-time":"2016-10-19T00:00:00Z","timestamp":1476835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1016\/j.ymgme.2016.10.006","type":"journal-article","created":{"date-parts":[[2016,10,20]],"date-time":"2016-10-20T00:19:35Z","timestamp":1476922775000},"page":"57-61","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":126,"title":["Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes"],"prefix":"10.1016","volume":"120","author":[{"given":"Albina","family":"Nowak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas P.","family":"Mechtler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Desnick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David C.","family":"Kasper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2016.10.006_bb0005","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3733","article-title":"\u03b1-galactosidase A deficiency: Fabry disease","author":"Desnick","year":"2001"},{"key":"10.1016\/j.ymgme.2016.10.006_bb0010","doi-asserted-by":"crossref","first-page":"338","DOI":"10.7326\/0003-4819-138-4-200302180-00014","article-title":"Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy","volume":"138","author":"Desnick","year":"2003","journal-title":"Ann. Intern. Med."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0015","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":"Echevarria","year":"2016","journal-title":"Clin. Genet."},{"issue":"2082","key":"10.1016\/j.ymgme.2016.10.006_bb0020","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."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0025","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1056\/NEJM199102073240607","article-title":"An atypical variant of Fabry's disease with manifestations confined to the myocardium","volume":"324","author":"von Scheidt","year":"1991","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0030","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0035","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.ymgme.2016.10.006_bb0040","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/humu.10275","article-title":"Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele","volume":"22","author":"Yasuda","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0045","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1111\/cge.12449","article-title":"Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance","volume":"88","author":"Smid","year":"2015","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0050","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2015-010422","article-title":"Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y","volume":"6","author":"Oder","year":"2016","journal-title":"BMJ Open"},{"key":"10.1016\/j.ymgme.2016.10.006_bb0055","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."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0060","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":"Smid","year":"2015","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0065","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":"Niemann","year":"2014","journal-title":"Circ. Cardiovasc. Genet."},{"issue":"Suppl 2","key":"10.1016\/j.ymgme.2016.10.006_bb0070","doi-asserted-by":"crossref","first-page":"S134","DOI":"10.1097\/01.ASN.0000016684.07368.75","article-title":"Renal pathology in Fabry disease","volume":"13","author":"Alroy","year":"2002","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0075","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1373\/clinchem.2012.192138","article-title":"Quantification of globotriaosylsphingosine in plasma and urine of Fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry","volume":"59","author":"Gold","year":"2013","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0080","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1002\/humu.9327","article-title":"Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease","volume":"25","author":"Schafer","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0085","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/GIM.0b013e31802d8321","article-title":"Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life","volume":"9","author":"Wang","year":"2007","journal-title":"Genet. Med."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0090","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s00439-005-1300-5","article-title":"Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes","volume":"117","author":"Matsuzawa","year":"2005","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0095","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1186\/s12881-016-0309-z","article-title":"Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles","volume":"17","author":"Oder","year":"2016","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.ymgme.2016.10.006_bb0100","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/humu.22910","article-title":"Functional and clinical consequences of novel alpha-galactosidase A mutations in Fabry disease","volume":"37","author":"Lukas","year":"2016","journal-title":"Hum. Mutat."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719216303250?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719216303250?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,14]],"date-time":"2019-09-14T16:37:47Z","timestamp":1568479067000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719216303250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":20,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["S1096719216303250"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2016.10.006","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2016.10.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}