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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… 
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme… 
Highly Cited
2012
Highly Cited
2012
Phenylketonuria (PKU) is characterized by phenylalanine accumulation and progressive mental retardation caused by an unknown… 
Review
2010
Review
2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in… 
Highly Cited
2008
Highly Cited
2008
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of… 
Review
2003
Review
2003
Newborns are now routinely screened for the presence of a number of inherited diseases. In these cases, early diagnosis allows… 
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… 
Highly Cited
1991
Highly Cited
1991
Introduction and historical perspective Neuroanatomical organization, experimental models and neuroimaging in animals Cognitive… 
Review
1980
Review
1980
Since many women with phenylketonuria (PKU) will have children of their own, we were interested in ascertaining the effect of… 
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…