Publicaciones en colaboración con investigadoras/es de Complexo Hospitalario Universitario de Santiago (4)

2013

  1. Arginine-guanidinoacetate-creatine pathway in preterm newborns: Creatine biosynthesis in newborns

    Journal of Pediatric Endocrinology and Metabolism, Vol. 26, Núm. 1-2, pp. 53-60

2009

  1. Guía clínica de diagnóstico y tratamiento urgente de hiperamonemia neonatal

    Anales de Pediatria, Vol. 70, Núm. 2, pp. 183-188

1999

  1. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions

    European Journal of Human Genetics, Vol. 7, Núm. 3, pp. 386-392

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