Publicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (4)

2004

  1. Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 101, Núm. 48, pp. 16903-16908

  2. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

    Human Mutation, Vol. 24, Núm. 5, pp. 388-399

  3. Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase

    Journal of the American Chemical Society, Vol. 126, Núm. 42, pp. 13670-13678

2003

  1. Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH

    Human Mutation, Vol. 21, Núm. 4, pp. 370-378