Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/62004

TitleNew biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study
Author(s)Aguiar, Patrício
Azevedo, Olga
Pinto, Rui
Marino, Jacira
Baker, Robert
Cardoso, Carlos
Ducla Soares, José Luís
Hughes, Derralynn
KeywordsAdult
Aged
Albuminuria
Biomarkers
Collagen Type IV
Cross-Sectional Studies
Disease Progression
Early Diagnosis
Fabry Disease
Female
Humans
Kidney
Male
Middle Aged
Prospective Studies
Renal Insufficiency, Chronic
Young Adult
beta-N-Acetyl-Galactosaminidase
Fabry disease nephropathy
N-acetyl-beta-glucosaminidase
N-acetyl-β-glucosaminidase
Issue dateJun-2017
PublisherElsevier
JournalMolecular Genetics and Metabolism
CitationAguiar, P., Azevedo, O., Pinto, R., Marino, et. al.(2017). New biomarkers defining a novel early stage of Fabry nephropathy: a diagnostic test study. Molecular genetics and metabolism, 121(2), 162-169.
Abstract(s)Renal involvement in Fabry disease is a major determinant of overall disease prognosis and early enzyme replacement therapy seems effective in preventing progression of kidney injury. Gb3 storage, glomerular sclerosis and tubulo-interstitial fibrosis may occur with minimal or no changes on standard renal tests, hence alternative markers of renal dysfunction are crucial. In this study we compared several biomarkers with albuminuria in the identification of incipient Fabry nephropathy and their diagnostic accuracy to identify chronic kidney disease (CKD) stage≥2.
TypeArticle
URIhttp://hdl.handle.net/1822/62004
DOI10.1016/j.ymgme.2017.05.007
ISSN1096-7192
e-ISSN1096-7206
Publisher versionhttps://www.sciencedirect.com/science/article/pii/S1096719217302251
Peer-Reviewedyes
AccessRestricted access (Author)
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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