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Phenylketonurias

Known as: Phenylketonurias [Disease/Finding], PKU, Phenylketonuria [PKU] 
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced… Expand
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of… Expand
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Review
2003
Review
2003
Newborns are now routinely screened for the presence of a number of inherited diseases. In these cases, early diagnosis allows… Expand
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Highly Cited
2002
Highly Cited
2002
In patients with phenylketonuria, blood phenylalanine concentration during childhood is the major determinant of cognitive… Expand
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Review
1999
Review
1999
Docosahexaenoic acid (DHA) is essential for the growth and functional development of the brain in infants. DHA is also required… Expand
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Highly Cited
1999
Highly Cited
1999
Large neutral amino acids (LNAAs), including phenylalanine (Phe), compete for transport across the blood-brain barrier (BBB) via… Expand
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Highly Cited
1996
Highly Cited
1996
HNF1 is a transcriptional activator of many hepatic genes including albumin, alpha1-antitrypsin, and alpha- and beta-fibrinogen… Expand
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Highly Cited
1993
Highly Cited
1993
A new method for quantifying specific amino acids in small volumes of plasma and whole blood has been developed. Based on isotope… Expand
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Highly Cited
1993
Highly Cited
1993
Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of… Expand
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Highly Cited
1991
Highly Cited
1991
Introduction and historical perspective Neuroanatomical organization, experimental models and neuroimaging in animals Cognitive… Expand
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Highly Cited
1963
Highly Cited
1963
A new method is described for rapid and economical screening of large numbers of hospital nursery infants for elevation in blood… Expand
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