Two cases of alkaptonuria.
نویسندگان
چکیده
منابع مشابه
Alkaptonuria.
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...
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ژورنال
عنوان ژورنال: Orthopedics & Traumatology
سال: 1984
ISSN: 1349-4333,0037-1033
DOI: 10.5035/nishiseisai.32.759