2007
DOI: 10.4324/9780203964262
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Colonial Modernities

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Cited by 36 publications
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“…Phenylketonuria (PKU) is an autosomal recessive genetic disorder involving mutations in the gene that encodes phenylalanine hydroxylase (PAH), a liver enzyme that converts the essential amino acid phenylalanine to tyrosine ( Figure 1A). [1][2][3][4][5][6][7] In the United States, PKU occurs in ~1/10,000-15,000 babies yearly. Diagnosis at birth is critical.…”
Section: Introductionmentioning
confidence: 99%
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“…Phenylketonuria (PKU) is an autosomal recessive genetic disorder involving mutations in the gene that encodes phenylalanine hydroxylase (PAH), a liver enzyme that converts the essential amino acid phenylalanine to tyrosine ( Figure 1A). [1][2][3][4][5][6][7] In the United States, PKU occurs in ~1/10,000-15,000 babies yearly. Diagnosis at birth is critical.…”
Section: Introductionmentioning
confidence: 99%
“…1,3,4,7,8 This 'inborn error of metabolism' leads to hyperphenylalaninemia in the blood and brain. [1][2][3][4][5]7,9 Elevated phenylalanine causes abnormalities in brain development associated with permanent intellectual impairment. Screening newborns for PKU involves laboratory testing by a bacterial inhibition assay, i.e., the Guthrie test, 10 or more recently, tandem mass spectrometry.…”
Section: Introductionmentioning
confidence: 99%
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