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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

Semantic Scholar uses AI to extract papers important to this topic.
Review
2010
Review
2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in… Expand
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
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
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
1991
Highly Cited
1991
Introduction and historical perspective Neuroanatomical organization, experimental models and neuroimaging in animals Cognitive… Expand
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Review
1980
Review
1980
Abstract Since many women with phenylketonuria (PKU) will have children of their own, we were interested in ascertaining the… Expand
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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Highly Cited
1953