Publicacións en colaboración con investigadores/as de Medical University of Vienna (14)

2024

  1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

2022

  1. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

2021

  1. Galactokinase deficiency: lessons from the GalNet registry

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

2020

  1. Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

    The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848

2019

  1. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

    Epilepsia Open, Vol. 4, Núm. 1, pp. 73-84

  2. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

  3. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  4. The effect of chest compression frequency on the quality of resuscitation by lifeguards. A prospective randomized crossover multicenter simulation trial

    Cardiology Journal, Vol. 26, Núm. 6, pp. 769-776

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

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

2018

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2017

  1. Assessment of continuous pain in newborns admitted to NICUs in 18 European countries

    Acta Paediatrica, International Journal of Paediatrics, Vol. 106, Núm. 8, pp. 1248-1259

  2. Global Asthma Network survey suggests more national asthma strategies could reduce burden of asthma

    Allergologia et Immunopathologia, Vol. 45, Núm. 2, pp. 105-114

2015

  1. Sedation and analgesia practices in neonatal intensive care units (EUROPAIN): Results from a prospective cohort study

    The Lancet Respiratory Medicine, Vol. 3, Núm. 10, pp. 796-812

2010

  1. The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)

    Molecular Genetics and Metabolism, Vol. 100, Núm. 1, pp. 42-45