Publications dans lesquelles il/elle collabore avec Javier Corral De La Calle (3)

2022

  1. Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies

    Glycobiology, Vol. 32, Núm. 2, pp. 84-100

2019

  1. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 5-28

2013

  1. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1