Publicacións en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (4)

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. Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]

    Molecular Genetics and Metabolism

2013

  1. Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

    Molecular Genetics and Metabolism, Vol. 110, Núm. 3, pp. 218-221