Publicaciones en colaboración con investigadores/as de Consejo Superior de Investigaciones Científicas (7)

2013

  1. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

    Molecular Genetics and Metabolism, Vol. 110, Núm. 1-2, pp. 73-77

2010

  1. Functional splicing assay supporting that c.70+5G>A mutation in the MPV17 gene is disease causing

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3

2009

  1. PDH E 1 β deficiency with novel mutations in two patients with Leigh syndrome

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1

2007

  1. A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

    Human Molecular Genetics, Vol. 16, Núm. 7, pp. 717-730

2004

  1. Congenital disorder of glycosylation (CDG) type Ie. A new patient

    Journal of Inherited Metabolic Disease, Vol. 27, Núm. 5, pp. 591-600

1998

  1. Medium-chain acyl-CoA dehydrogenase deficiency in Spain

    Journal of Inherited Metabolic Disease, Vol. 21, Núm. 6, pp. 693-694

1997

  1. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

    Pediatric Neurology, Vol. 17, Núm. 2, pp. 165-170