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  • Title: Alkaptonuria Presenting with Impressive Osteoarticular Changes and Severe Aortic Stenosis.
    Author: Roca B, Roca M, Monferrer R.
    Journal: Conn Med; 2016 Mar; 80(3):139-41. PubMed ID: 27169295.
    Abstract:
    Alkaptonuria, or ochronosis, a rare autosomal recessive metabolic disorder, causes an excess of homogentisic acid that results in dark pigmentation, calcification, and inflammation of cartilaginous and other tissues. Cardiovascular complications are also typical of the disease. We report the case of a 78-year-old male who presented with impressive osteoarticular changes and aortic stenosis associated with alkaptonuria.
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