Publicaciones en las que colabora con Lourdes Ruiz Desviat (5)

2008

  1. Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

    Journal of Inherited Metabolic Disease, Vol. 31, Núm. 1, pp. 55-66

2000

  1. Potential relationship between genotype and clinical outcome in propionic acidaemia patients

    European Journal of Human Genetics, Vol. 8, Núm. 3, pp. 187-194

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

1994

  1. Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families

    Journal of Inherited Metabolic Disease, Vol. 17, Núm. 3, pp. 377-378

  2. Phenotype distribution in the Spanish phenylketonuria population and related genotypes

    Journal of Inherited Metabolic Disease, Vol. 17, Núm. 3, pp. 366-368