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Autor:
T V, Bushueva, L M, Kuzenkova, T É, Borovik, L P, Nazarenko, G N, Seitova, M N, Filimonova, N A, Pichkur, N V, Samonenko, T A, Shkurko, É N, Akhmadeeva, A K, Mardanova, É R, Garifullina, O P, Kovtun, Iu L, Bazhenova, I L, Alimova, E A, Kostiakova, L I, Minaĭcheva, O A, Saliukova, V M, Sivokha, O L, Rozenson
Publikováno v:
Annals of the Russian academy of medical sciences. 69:69-77
Background : Phenylketonuria (PKU) is an autosomal recessive inherited disease associated with impaired metabolism of the amino acids phenylalanine (Phe) and tyrosine. The main criterion for diagnosis of PKU is high blood Phe level determined during