Alkaptonuria presenting as ochronotic spondylo-arthropathy in siblings with low back pain: a case report
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چکیده
منابع مشابه
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Alkaptonuria is believed to have been described as early as 1584 (Garrod 1923). Marcet in 1823 (Rose 1957) recorded the case ofa patient whose urine caused black stains on the clothing. An accurate account of the condition was given by Boedeker (1859), who described a patient with glycosuria in whom a second reducing substance was found in the urine. This he named “alkapton” on account of its b...
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Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is due to the lack of an enzyme homogentisate 1,2-dioxygenase, which results in an accumulation of homogentisic acid in different areas of the body, including sclera, skin, cardiac valves, articular cartilage of the large joints and intervertebral disks. We present two cases of alkaptonuria resulting...
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ژورنال
عنوان ژورنال: IP International Journal of Orthopaedic Rheumatology
سال: 2020
ISSN: 2581-8112,2581-9151
DOI: 10.18231/j.ijor.2020.007