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Autor:
Sheyla Apaydin, Murat Tuğcu, Gülbüz Sezgin, Mehmet Dikec, Gulizar Manga Sahin, Mustafa Canbakan, Murat Gücün, Aysun Yakut
Publikováno v:
Genomics. 43:115-122
Alkaptonuria (AKU; McKusick No. 203500), a rare hereditary disorder of the phenylalanine catabolism, was the first disease to be interpreted as an inborn error of metabolism (A. E. Garrod, 1902, Lancet 2: 1616-1620). AKU patients are deficient for ho