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pubmed-article:17213354rdf:typepubmed:Citationlld:pubmed
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pubmed-article:17213354pubmed:issue1lld:pubmed
pubmed-article:17213354pubmed:dateCreated2007-1-10lld:pubmed
pubmed-article:17213354pubmed:abstractTextAlkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase, an enzyme responsible for the metabolic degradation of tyrosine. Patients with alkaptonuria commonly present with joint pain owing to degenerative arthritis. Other affected patients may present with pigmentation of the ear cartilage and sclera. This article reports a case of aortic stenosis associated with ochronosis in a 48-year-old man who presented with severe cardiac failure. He had no previous diagnosis of alkaptonuria, which was confirmed by mass spectrometry analysis of urine. The pathogenesis of cardiovascular ochronosis is unclear, but is probably related to the extensive extracellular deposits of ochronotic pigment in the cardiac tissue.lld:pubmed
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pubmed-article:17213354pubmed:issn0021-9746lld:pubmed
pubmed-article:17213354pubmed:authorpubmed-author:HughesS ESElld:pubmed
pubmed-article:17213354pubmed:authorpubmed-author:BrullDDlld:pubmed
pubmed-article:17213354pubmed:authorpubmed-author:HaywardMMlld:pubmed
pubmed-article:17213354pubmed:authorpubmed-author:KrywawychSSlld:pubmed
pubmed-article:17213354pubmed:authorpubmed-author:FfolkesL VLVlld:pubmed
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pubmed-article:17213354pubmed:volume60lld:pubmed
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pubmed-article:17213354pubmed:pagination92-3lld:pubmed
pubmed-article:17213354pubmed:dateRevised2010-9-15lld:pubmed
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pubmed-article:17213354pubmed:year2007lld:pubmed
pubmed-article:17213354pubmed:articleTitleAortic stenosis in cardiovascular ochronosis.lld:pubmed
pubmed-article:17213354pubmed:affiliationDepartment of Histopathology, University College London Hospitals NHS Trust, London, UK.lld:pubmed
pubmed-article:17213354pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:17213354pubmed:publicationTypeCase Reportslld:pubmed