Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)

2017

  1. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

    Journal of Pediatrics, Vol. 183, pp. 170-177.e1

  2. DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress

    PLoS ONE, Vol. 12, Núm. 6

2016

  1. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

    Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043

2015

  1. Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

    Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48

2011

  1. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

    Neurogenetics, Vol. 12, Núm. 3, pp. 183-191