Publicacións en colaboración con investigadores/as de Oslo University Hospital (12)

2021

  1. Corrigendum to “European Resuscitation Council Guidelines 2021: Executive summary” [Resuscitation (2021) 1–60] (Resuscitation (2021) 161 (1–60), (S0300957221000551), (10.1016/j.resuscitation.2021.02.003))

    Resuscitation

  2. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

  3. Executive summary: European Resuscitation Council Guidelines 2021

    Notfall und Rettungsmedizin, Vol. 24, Núm. 4, pp. 274-345

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

    Frontiers in Pediatrics, Vol. 9

  5. Treatment of Multisystem Inflammatory Syndrome in Children

    New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22

2020

  1. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 726-736

  2. The impact of gender, puberty, and pregnancy in patients with POLG disease

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 2019-2025

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

2014

  1. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

2010

  1. European Resuscitation Council Guidelines for Resuscitation 2010 Section 6. Paediatric life support

    Resuscitation, Vol. 81, Núm. 10, pp. 1364-1388

  2. Lebensrettende Maßnahmen bei Kindern ("paediatric life support"): Sektion 6 der Leitlinien zur Reanimation 2010 des European Resuscitation Council

    Notfall und Rettungsmedizin, Vol. 13, Núm. 7, pp. 635-664

  3. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115