Publicaciones en las que colabora con María Luz Couce Pico (5)

2019

  1. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751

2018

  1. Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

    Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413

2017

  1. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)

    Journal of Inherited Metabolic Disease

2013

  1. Clinical manifestations in female carriers of mucopolysaccharidosis type II: A spanish cross-sectional study

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

  2. Guía de prá ctica clínica para el tratamiento del síndrome de Hunter

    Medicina Clinica, Vol. 141, Núm. 10