Habbal M.Z.; Bou-Assi T.; Zhu J.; Owen R.; Chehab F.F.
(Public Library of Science; SAN FRANCISCO1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA, 2014)
Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumulation of peripheral homogentisic acid and molecularly by the presence of mutations in the homogentisate 1,2-dioxygenase ...