Publicacions en col·laboració amb investigadors/es de Centro de Biología Molecular Severo Ochoa (3)

2007

  1. BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor

    Clinica Chimica Acta, Vol. 380, Núm. 1-2, pp. 8-12

2005

  1. Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin

    Molecular Genetics and Metabolism, Vol. 86, Núm. SUPPL., pp. 61-66

2004

  1. Tetrahydrobiopterin responsiveness: Results of the BH 4 loading test in 31 Spanish PKU patients and correlation with their genotype

    Molecular Genetics and Metabolism, Vol. 83, Núm. 1-2, pp. 157-162