Publicaciones en las que colabora con Lourdes Ruiz Desviat (6)

2020

  1. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

    Human Mutation, Vol. 41, Núm. 7, pp. 1329-1338

  2. The Genetic Landscape and Epidemiology of Phenylketonuria

    American Journal of Human Genetics, Vol. 107, Núm. 2, pp. 234-250

2019

  1. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11

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