Publicacións en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (3)

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

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

2015

  1. Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

    European Journal of Paediatric Neurology, Vol. 19, Núm. 6, pp. 652-659