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