Publicacións en colaboración con investigadores/as de KU Leuven (6)

2023

  1. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185

2021

  1. Extremely Preterm Infant Admissions Within the SafeBoosC-III Consortium During the COVID-19 Lockdown

    Frontiers in Pediatrics, Vol. 9

  2. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

2020

  1. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

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

  2. The natural history of classic galactosemia: Lessons from the GalNet registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1