Publicacions en col·laboració amb investigadors/es de Universidad Autónoma de Madrid (4)

2017

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

    PLoS ONE, Vol. 12, Núm. 6

2016

  1. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

    American Journal of Human Genetics, Vol. 98, Núm. 2, pp. 310-321

2013

  1. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

    Journal of Inherited Metabolic Disease, Vol. 36, Núm. 3, pp. 535-542

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