Publicaciones en las que colabora con Vicente Rubio Zamora (6)

2008

  1. Los defectos del ciclo de la urea en el neonato: Una urgencia vital

    Revista Espanola de Pediatria, Vol. 64, Núm. 2, pp. 158-162

1999

  1. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.

    Human mutation, Vol. 14, Núm. 4, pp. 352-353

1995

  1. A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

    Human Genetics, Vol. 96, Núm. 5, pp. 549-551

  2. Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity

    Human Genetics, Vol. 95, Núm. 2, pp. 183-186

  3. INTOLERANCIA PROTEICA CON LISINURIA (ACIDURIA DIBASICA). A PROPOSITO DE UN CASO

    Anales Espanoles de Pediatria, Vol. 42, Núm. 3, pp. 219-220

1991

  1. Neonatal citrullinaemia with satisfactory mental development

    European Journal of Pediatrics, Vol. 150, Núm. 10, pp. 730-731