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Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12152
Abstract: Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity. The process involves selective deposition of homogentisic acid (HGA)‐derived pigment in tissues altering the properties of these tissues, leading to their failure.…
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Keywords:
pigmentation caused;
homogentisic acid;
ochronotic pigmentation;
disease ... See more keywords