Human Phenylalanine Hydroxylase Gene Expression in Kidney and Other Nonhepatic Tissues

By Lichter-Konecki U.   Hipke C.M.   Konecki D.S.  

Molecular Genetics and Metabolism, Vol. 67, Iss. 4, 1999-08 ,pp. : 308-316

Academic Press

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Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency: Possible Regulation of Gene Expression in a Patient with the Homozygous L48S Mutation

By Blau N.   Trefz F.K.  

Molecular Genetics and Metabolism, Vol. 75, Iss. 2, 2002-02 ,pp. : 186-187

Elsevier

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The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

By Leandro P.   Rivera I.   Lechner M.C.   de Almeida I.T.   Konecki D.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 204-212

Academic Press

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Characterization of the Mouse Phenylalanine Hydroxylase Mutation Pah^enu3

By Haefele M.J.   White G.   McDonald J.D.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 1, 2001-01 ,pp. : 27-30

Academic Press

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The Mutant Genotype Is the Main Determinant of the Metabolic Phenotype in Phenylalanine Hydroxylase Deficiency

By Bénit P.   Rey F.   Blandin-Savoja F.   Munnich A.   Abadie V.   Rey J.  

Molecular Genetics and Metabolism, Vol. 68, Iss. 1, 1999-09 ,pp. : 43-47

Academic Press

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