Detection of alkaptonuria in a 1-week-old infant
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چکیده
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Early detection of alkaptonuria.
Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like darkening of urine, ochronosis and arthropathy. Darkening of urine is one of the first symptoms noticed by the parents of the child suffering from this disorder. Ochronosis is seen in various organs like eyes, skin, tendons and joints. A case of ...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2015
ISSN: 1757-790X
DOI: 10.1136/bcr-2014-208505