Identification of ochronosis, its inhibition by nitisinone, and the use of surgical and chemical interventions in murine models of alkaptonuria
Alkaptonuria (AKU) is an ultra rare autosomal recessive disorder resulting from a deficiency of the homogentisate 1,2-dioxygenase (Hgd) enzyme and is characterized by accumulation of homogentisic acid (HGA) in plasma. The disorder has three distinct stages of disease beginning with the excretion of...
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University of Liverpool
2015
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.664400 |