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- W2079304464 abstract "Inherited disorders of intermediary metabolism are the prototypes for the treatment of genetic disorders. In each condition, accumulation of a metabolite results from a genetically determined abnormality in a metabolic pathway in which there is deficient biosynthesis either of an enzyme or of a cofactor necessary for the function of an enzyme, leading to abnormal activity of the enzyme. The outcome in patients identified by newborn-screening programs in the United States and around the world attests to the success of treatments based on an understanding of the pathophysiology of these disorders. Therapy spares children the ravages of severe illness, mental . . ." @default.
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- W2079304464 title "Tetrahydrobiopterin and Dietary Restriction in Mild Phenylketonuria" @default.
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