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phenylketones

National Institutes of Health

Papers overview

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2011
2011
Association between minihaplotypes and mutations at the phenylalanine hydroxylase locus in Latvian phenylketonuria patients… 
2009
2009
Phenylketonuria (PKU) is a metabolic disorder caused by impaired phenylalanine hydroxylase (PAH). This condition results in… 
Review
1994
Review
1994
Highly Cited
1993
Highly Cited
1993
We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase… 
Highly Cited
1990
Highly Cited
1990
Mutant mice exhibiting heritable hyperphenylalaninemia have been isolated after ethylnitrosourea mutagenesis of the germ line. We… 
1961
1961
Summary Experimental phenylketonuria has been produced in young rats by feeding excessive quantities of L-phenylalanine. Rats fed… 
1960
1960
WE had previously established1 that the characteristic aberrations found in human phenylketonuria, namely, high plasma…