Publicaciones en colaboración con investigadores/as de KU Leuven (3)

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

2001

  1. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease

    European Journal of Paediatric Neurology, Vol. 5, Núm. 3, pp. 127-131