| alkaptonuria |
a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
출처: wordnet.princeton.edu/perl/webwn
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| alkaptonuria |
尿黑酸症, An autosomal recessive condition in humans caused by the lack of an enzyme, homogentisic acid oxidase. Urine of homozygous individuals turns dark upon standing due to oxidation of excreted homogentisic acid. The cartilage of homozygous adults blackens from deposition of a pigment derived from homogentisic acid. Such individuals often develop arthritic conditions.
출처: www.geocities.com/bioinfoweb/glossary/glossary.htm...
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| alkaptonuria |
Due to deficiency of homogentisic acid oxidase with features of ochronosis - pigmentation of articular cartilage, early osteoarthritis and calcification of intervertebral discs. Urine turns dark on standing.
출처: www.ilar.org/Glossary/Glossary_a.htm
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| alkaptonuria |
Alkaptonuria (Ochronosis) Alkaptonuria is a rare inherited (genetic) disorder. The gene defect causes accumulation of homogentisic acid. The excess homogentisic acid causes dark discoloration of tissues and is known as ochronosis. Damage to j More Detail Info ...
출처: www.medicineonline.com/Default.asp
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