Publications by the researcher in collaboration with Lourdes Ruiz Desviat (5)

2019

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

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

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

2009

  1. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566

1997

  1. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

    European Journal of Human Genetics, Vol. 5, Núm. 4, pp. 196-202