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Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in… Expand Newborns are now routinely screened for the presence of a number of inherited diseases. In these cases, early diagnosis allows… Expand In patients with phenylketonuria, blood phenylalanine concentration during childhood is the major determinant of cognitive… Expand Docosahexaenoic acid (DHA) is essential for the growth and functional development of the brain in infants. DHA is also required… Expand HNF1 is a transcriptional activator of many hepatic genes including albumin, alpha1-antitrypsin, and alpha- and beta-fibrinogen… Expand A new method for quantifying specific amino acids in small volumes of plasma and whole blood has been developed. Based on isotope… Expand Introduction and historical perspective Neuroanatomical organization, experimental models and neuroimaging in animals Cognitive… Expand Abstract Since many women with phenylketonuria (PKU) will have children of their own, we were interested in ascertaining the… Expand A new method is described for rapid and economical screening of large numbers of hospital nursery infants for elevation in blood… Expand