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Dobrowolski SF, Borski K, Ellingson CC, Koch R, Levy HL, Naylor EW. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. Journal of Human Genetics. 2009 May 15;54(6):335–9. doi: 10.1038/jhg.2009.37. |