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phenylketones

 
National Institutes of Health

Papers overview

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Review
2018
Review
2018
Phenylketonuria is a defect in phenylalanine metabolism resulting in the excretion of phenylketones and severe intellectual… Expand
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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
Phenylketonuria (PKU; OMIM 261600) is one of the most common inborn errors of metabolism in Caucasians, with a frequency of 1… 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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1993
1993
We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase… Expand
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1992
1992
Dimeric dihydrodiol dehydrogenases from pig liver, monkey kidney, and rabbit lens were inhibited more potently by 4… Expand
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Highly Cited
1990
Highly Cited
1990
Mutant mice exhibiting heritable hyperphenylalaninemia have been isolated after ethylnitrosourea mutagenesis of the germ line. We… Expand
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1985
1985
  • Urban 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
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1966
1966
A child with an elevated serum level of phenylalanine, a typical phenylketonuria phenylalanine tolerance test, an absence of… Expand
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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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