In Vitro Expression of 34 Naturally Occurring Mutant Variants of Phenylalanine Hydroxylase: Correlation with Metabolic Phenotypes and Susceptibility toward Protein Aggregation

By Gjetting T.   Petersen M.   Guldberg P.   Güttler F.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 2, 2001-02 ,pp. : 132-143

Academic Press

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Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype

By Waters P.J.   Parniak M.A.   Akerman B.R.   Scriver C.R.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 2, 2000-02 ,pp. : 101-110

Academic Press

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Glycerol Increases the Yield and Activity of Human Phenylalanine Hydroxylase Mutant Enzymes Produced in a Prokaryotic Expression System

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

Molecular Genetics and Metabolism, Vol. 73, Iss. 2, 2001-06 ,pp. : 173-178

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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Genotype–Phenotype Correlations in Neuronal Ceroid Lipofuscinosis Due to Palmitoyl-Protein Thioesterase Deficiency

By Hofmann S.L.   Das A.K.   Yi W.   Lu J-Y.   Wisniewski K.E.  

Molecular Genetics and Metabolism, Vol. 66, Iss. 4, 1999-04 ,pp. : 234-239

Academic Press

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