Publications by the researcher in collaboration with María Belén Pérez González (3)

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

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