Alkaptonuria: A hereditary disease which is usually diagnosed in adulthood
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homogentisate dioxygenase leading to accumulation of homogentisic acid. Urine becoming dark on oxygenation or alkalinization is the first symptom but is often ignored. The patient usually presents with pigm...
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| Main Authors: | , , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2021-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |