ALKAPTONURIA DIAGNOSED IN A GERIATRIC PATIENT; A CASE REPORT
نویسندگان
چکیده
منابع مشابه
Alkaptonuria: A case report
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ...
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ژورنال
عنوان ژورنال: The Turkish Journal of Geriatrics
سال: 2020
ISSN: 1304-2947
DOI: 10.31086/tjgeri.2020.148