Assessment of disease progression in the rare disease alkaptonuria by quantitative image analysis
Alkaptonuria (AKU) arises from a genetic deficiency of homogentisate 1,2 dioxygenase (HGD) an enzyme involved in tyrosine metabolism. AKU is characterised by high circulating homogentisic acid (HGA) some of which is deposited as ochronotic pigment in connective tissues, mainly cartilage, leading to...
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University of Liverpool
2018
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| Online Access: | https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.755716 |