Edwin Naylor to Phenylketonurias
This is a "connection" page, showing publications Edwin Naylor has written about Phenylketonurias.
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A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. J Hum Genet. 2009 Jun; 54(6):335-9.
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Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. J Inherit Metab Dis. 2009 Feb; 32(1):10-21.
Score: 0.077
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Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol Genet Metab. 2007 Jul; 91(3):218-27.
Score: 0.070
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Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. 1993 Sep; 53(3):768-74.
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Recent developments in neonatal screening. Semin Perinatol. 1985 Apr; 9(3):232-49.
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Newborn screening for urea cycle disorders. Adv Exp Med Biol. 1982; 153:9-18.
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