Publicacions en col·laboració amb investigadors/es de KU Leuven (7)

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

2016

  1. Natural killer cell receptors and cytotoxic activity in phosphomannomutase 2 deficiency (PMM2-CDG)

    PLoS ONE, Vol. 11, Núm. 7

2013

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

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

1995

  1. Constitutive glucose-induced activation of the Ras-cAMP pathway and aberrant stationary-phase entry on a glucose-containing medium in the Saccharomyces cerevisiae glucose-repression mutant hex2

    Microbiology, Vol. 141, Núm. 7, pp. 1559-1566

1994

  1. Activation of trehalase during growth induction by nitrogen sources in the yeast Saccharomyces cerevisiae depends on the free catalytic subunits of camp‐dependent protein kinase, but not on functional ras proteins

    Yeast, Vol. 10, Núm. 8, pp. 1049-1064

1990

  1. Absence of glucose-induced cAMP signaling in the Saccharomyces cerevisiae mutants cat1 and cat3 which are deficient in derepression of glucose-repressible proteins

    Archives of Microbiology, Vol. 154, Núm. 2, pp. 199-205

  2. Glucose-induced hyperaccumulation of cyclic AMP and defective glucose repression in yeast strains with reduced activity of cyclic AMP-dependent protein kinase

    Molecular and Cellular Biology, Vol. 10, Núm. 9, pp. 4518-4523