{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:04:34Z","timestamp":1790395474088,"version":"4.1.0"},"reference-count":50,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1016\/j.ymgme.2017.05.007","type":"journal-article","created":{"date-parts":[[2017,5,13]],"date-time":"2017-05-13T11:46:43Z","timestamp":1494676003000},"page":"162-169","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study"],"prefix":"10.1016","volume":"121","author":[{"given":"Patr\u00edcio","family":"Aguiar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6784-3403","authenticated-orcid":false,"given":"Olga","family":"Azevedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacira","family":"Marino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Cardoso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Lu\u00eds","family":"Ducla Soares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derralynn","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2017.05.007_bb0005","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0010","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.38.11.769","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carriers females","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0015","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/j.1365-2362.2004.01309.x","article-title":"Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey","volume":"34","author":"Mehta","year":"2004","journal-title":"Eur. J. Clin. Investig."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0020","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/jmg.2008.065904","article-title":"Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey","volume":"46","author":"Mehta","year":"2009","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0025","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","article-title":"Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry registry","volume":"11","author":"Waldek","year":"2009","journal-title":"Genet. Med."},{"issue":"Suppl. 2","key":"10.1016\/j.ymgme.2017.05.007_bb0030","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1023\/A:1012423924648","article-title":"Renal pathological changes in Fabry disease","volume":"24","author":"Sessa","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0035","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1053\/j.ajkd.2007.12.032","article-title":"Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria","volume":"51","author":"T\u00f8ndel","year":"2008","journal-title":"Am. J. Kidney Dis."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0040","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ki.2010.484","article-title":"Podocyte injury and GL-3 accumulation are progressive in young patients with Fabry disease","volume":"79","author":"Najafian","year":"2011","journal-title":"Kidney Int."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0045","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1681\/ASN.2012030316","article-title":"Agalsidase benefits renal histology in young patients with Fabry disease","volume":"24","author":"T\u00f8ndel","year":"2013","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0050","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000369309","article-title":"Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria","volume":"129","author":"T\u00f8ndel","year":"2015","journal-title":"Nephron"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0055","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/ki.1978.32","article-title":"Early renal changes in hemizygous and heterozygous patients with Fabry's disease","volume":"13","author":"Gubler","year":"1978","journal-title":"Kidney Int."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0060","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0124987","article-title":"Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial","volume":"10","author":"Wijburg","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0065","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1007\/s40620-016-0271-z","article-title":"Podocyturia is significantly elevated in untreated vs treated Fabry adult patients","volume":"29","author":"Trimarchi","year":"2016","journal-title":"J. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0070","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0168346","article-title":"Urinary podocyte loss is increased in patients with Fabry disease and correlates with clinical severity of Fabry nephropathy","volume":"11","author":"Fall","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0075","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1007\/s00467-016-3387-4","article-title":"Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta","volume":"31","author":"Ito","year":"2016","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0080","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1093\/ndt\/gfm848","article-title":"Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy","volume":"23","author":"Ortiz","year":"2008","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0085","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/ncpneph0806","article-title":"Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults","volume":"4","author":"Ortiz","year":"2008","journal-title":"Nat. Clin. Pract. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0090","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1007\/s00467-012-2222-9","article-title":"Renal complications of Fabry disease in children","volume":"28","author":"Najafian","year":"2013","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0095","doi-asserted-by":"crossref","first-page":"2102","DOI":"10.1093\/ndt\/gfp031","article-title":"Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy","volume":"24","author":"Schiffmann","year":"2009","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0100","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.2215\/CJN.04340510","article-title":"Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry registry","volume":"5","author":"Wanner","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0105","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human a-galactosidase a replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0110","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in Fabry disease \u2014 a randomized controlled trial","volume":"285","author":"Schiffmann","year":"2001","journal-title":"JAMA"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0115","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/ndt\/gfi152","article-title":"Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting","volume":"21","author":"Schiffmann","year":"2006","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0120","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1681\/ASN.2006080816","article-title":"Sustained, long-term renal stabilization after 54months of agalsidase beta therapy in patients with Fabry disease","volume":"18","author":"Germain","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0125","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s13023-015-0338-2","article-title":"Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10years' treatment","volume":"10","author":"Kampmann","year":"2015","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0130","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmedgenet-2014-102797","article-title":"Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease","volume":"52","author":"Germain","year":"2015","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0135","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"Agalsidase-beta therapy for advanced Fabry disease: a randomized trial","volume":"146","author":"Banikazemi","year":"2007","journal-title":"Ann. Intern. Med."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0140","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1038\/sj.ki.5000208","article-title":"Clinical benefit of enzyme replacement therapy in Fabry disease","volume":"69","author":"Breunig","year":"2006","journal-title":"Kidney Int."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0145","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1186\/s13023-014-0169-6","article-title":"Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study","volume":"9","author":"Schiffmann","year":"2014","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0150","first-page":"19","article-title":"2012 clinical practice guideline for the evaluation and management of chronic kidney disease","volume":"3","author":"KDIGO","year":"2013","journal-title":"Kidney Int. Suppl."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0155","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\u2013Fabry 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.ymgme.2017.05.007_bb0160","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1136\/jmedgenet-2011-100407","article-title":"Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease","volume":"49","author":"Hughes","year":"2012","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0165","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S1056-8727(97)00045-7","article-title":"Markers of diabetic nephropathy","volume":"12","author":"Hong","year":"1998","journal-title":"J. Diabetes Complicat."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0170","first-page":"649","article-title":"Diagnostic significance of urinary transferrin in diabetic nephropathy","volume":"37","author":"Kanauchi","year":"1995","journal-title":"Nippon Jinso Gakkai Shi"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0175","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/0168-8227(96)01210-7","article-title":"Urinary type IV collagen as a marker for early diabetic nephropathy","volume":"31","author":"Kado","year":"1996","journal-title":"Diabetes Res. Clin. Pract."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0180","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1093\/ndt\/gfq306","article-title":"Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy","volume":"26","author":"Sanchez-Ni\u00f1o","year":"2011","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0185","first-page":"277","article-title":"The significance of determination of urinary type IV collagen concentrations from a random urine collection in patients with non-insulin dependent diabetes mellitus","volume":"46","author":"Kotajima","year":"1998","journal-title":"Rinsho Byori"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0190","doi-asserted-by":"crossref","first-page":"476","DOI":"10.2337\/diabetes.49.3.476","article-title":"Course of renal function in type 2 diabetic patients with abnormalities of albumin excretion rate","volume":"49","author":"Nosadini","year":"2000","journal-title":"Diabetes"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0195","doi-asserted-by":"crossref","first-page":"914","DOI":"10.2337\/diacare.24.5.914","article-title":"Increased collagen type IV excretion in diabetes","volume":"24","author":"Cohen","year":"2001","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0200","doi-asserted-by":"crossref","first-page":"3195","DOI":"10.1093\/ndt\/gfr084","article-title":"Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic technique","volume":"26","author":"Selvarajah","year":"2011","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0205","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/1750-1172-8-116","article-title":"Fibrosis: a key feature of Fabry disease with potential therapeutic implications","volume":"8","author":"Weidemann","year":"2013","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0210","first-page":"559","article-title":"Serum cystatin C and urinary enzymes as screening markers of renal dysfunction in diabetic patients","volume":"18","author":"Uslu","year":"2005","journal-title":"J. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0215","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1007\/s11892-003-0013-1","article-title":"The role of renal proximal tubular cells in diabetic nephropathy","volume":"3","author":"Phillips","year":"2003","journal-title":"Curr. Diab. Rep."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0220","doi-asserted-by":"crossref","first-page":"205948","DOI":"10.1155\/2013\/205948","article-title":"Urine bikunin as a marker of renal impairment in Fabry's disease","volume":"2013","author":"Lepedda","year":"2013","journal-title":"Biomed. Res. Int."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0225","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1093\/ndt\/gft452","article-title":"Long-term enzyme replacement therapy is associated with reduced proteinuria and preserved proximal tubular function in women with Fabry disease","volume":"29","author":"Prabakaran","year":"2014","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0230","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/S0006-291X(75)80388-3","article-title":"A urinary and plasma \u03b11-glycoprotein of low molecular weight: isolation and some properties","volume":"65","author":"Ekstrom","year":"1975","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0235","doi-asserted-by":"crossref","first-page":"338","DOI":"10.2337\/diacare.26.2.338","article-title":"Urinary alpha1-micorglobulin as a marker of nephropathy in type 2 diabetic Asian subjects in Singapore","volume":"26","author":"Hong","year":"2003","journal-title":"Diabetes Care"},{"key":"10.1016\/j.ymgme.2017.05.007_bb0240","doi-asserted-by":"crossref","first-page":"360","DOI":"10.2215\/CJN.06090809","article-title":"Biomarkers of Fabry disease nephropathy","volume":"5","author":"Schiffmann","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0245","doi-asserted-by":"crossref","first-page":"123","DOI":"10.2298\/VSP0702123V","article-title":"Damage of tubule cells in diabetic nephropathy type 2: urinary N-acetyl-beta-d-glucosaminidasis and gamma-glutamil-transferase","volume":"64","author":"Vlastimir","year":"2007","journal-title":"Vojnosanit. Pregl."},{"key":"10.1016\/j.ymgme.2017.05.007_bb0250","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/dmrr.1068","article-title":"Urinary biomarkers involved in type 2 diabetes: a review","volume":"26","author":"Matheson","year":"2010","journal-title":"Diabetes Metab. Res. Rev."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217302251?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217302251?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T17:56:34Z","timestamp":1535824594000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217302251"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6]]},"references-count":50,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["S1096719217302251"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.05.007","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2017,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2017.05.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}