Publikationen in Zusammenarbeit mit Forschern von Centro de Biología Molecular Severo Ochoa (4)

2017

  1. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

    Human Mutation, Vol. 38, Núm. 6, pp. 678-691

2016

  1. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2013

  1. Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

    Gene, Vol. 521, Núm. 1, pp. 100-104

  2. Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain

    Journal of Human Genetics, Vol. 58, Núm. 5, pp. 279-284