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phenylketones

National Institutes of Health

Papers overview

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2012
2012
Inborn errors of metabolism (IEM) are a group of inherited disorders occurring due to a single gene defect, resulting in… Expand
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2011
2011
Association between minihaplotypes and mutations at the phenylalanine hydroxylase locus in Latvian phenylketonuria patients… Expand
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2009
2009
Phenylketonuria (PKU) is a metabolic disorder caused by impaired phenylalanine hydroxylase (PAH). This condition results in… Expand
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Highly Cited
1993
Highly Cited
1993
We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase… Expand
Highly Cited
1990
Highly Cited
1990
Mutant mice exhibiting heritable hyperphenylalaninemia have been isolated after ethylnitrosourea mutagenesis of the germ line. We… Expand
1985
1985
  • U. Olsson
  • Metabolism: clinical and experimental
  • 1985
  • Corpus ID: 42157209
Male rats were fed a selenium-deficient Torula yeast diet with or without 0.2 ppm selenium (as sodium selenite) in the drinking… Expand
1966
1966
A child with an elevated serum level of phenylalanine, a typical phenylketonuria phenylalanine tolerance test, an absence of… Expand
1963
1963
EXPERIMENTAL phenylketonuria has been induced in the rhesus monkey by feeding excess dietary phenyl-alanine1,2. The phenylalanine… Expand
1961
1961
Summary Experimental phenylketonuria has been produced in young rats by feeding excessive quantities of L-phenylalanine. Rats fed… Expand
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1960
1960
WE had previously established1 that the characteristic aberrations found in human phenylketonuria, namely, high plasma… Expand