Publicacións en colaboración con investigadores/as de University of Pennsylvania (20)

2022

  1. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

    PLoS genetics, Vol. 18, Núm. 11, pp. e1010367

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  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. Evidence-based defibrillation dosage for children: Is it feasible to power a reliable pediatric clinical trial or it is mission impossible?

    Resuscitation

  4. Performing simulated basic life support without seeing: Blind vs. blindfolded people

    International Journal of Environmental Research and Public Health, Vol. 18, Núm. 20

2020

  1. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

    Scientific Reports, Vol. 10, Núm. 1

  2. Prevalence of Errors in Anaphylaxis in Kids (PEAK): A Multicenter Simulation-Based Study

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 8, Núm. 4, pp. 1239-1246.e3

2019

  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, Vol. 42, Núm. 2, pp. 333-352

  2. Risk Factors for Mortality in Pediatric Postsurgical versus Medical Severe Sepsis

    Journal of Surgical Research, Vol. 242, pp. 100-110

  3. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106

2018

  1. Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772

  2. 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

  3. Site variability in regulatory oversight for an international study of pediatric sepsis

    Pediatric Critical Care Medicine, Vol. 19, Núm. 4, pp. e180-e188

2017

  1. High Levels of Morbidity and Mortality among Pediatric Hematopoietic Cell Transplant Recipients with Severe Sepsis: Insights from the Sepsis PRevalence, OUtcomes, and Therapies International Point Prevalence Study

    Pediatric Critical Care Medicine, Vol. 18, Núm. 12, pp. 1114-1125

  2. New or Progressive Multiple Organ Dysfunction Syndrome in Pediatric Severe Sepsis: A Sepsis Phenotype With Higher Morbidity and Mortality

    Pediatric Critical Care Medicine, Vol. 18, Núm. 1, pp. 8-16

2016

  1. Acute Kidney Injury in Pediatric Severe Sepsis: An Independent Risk Factor for Death and New Disability

    Critical Care Medicine, Vol. 44, Núm. 12, pp. 2241-2250

  2. Comparison of Pediatric Severe Sepsis Managed in U.S. and European ICUs

    Pediatric Critical Care Medicine, Vol. 17, Núm. 6, pp. 522-530

2015

  1. Discordant identification of pediatric severe sepsis by research and clinical definitions in the SPROUT international point prevalence study

    Critical Care, Vol. 19, Núm. 1

  2. Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

2011

  1. A randomized comparison of the glidescope videolaryngoscope to the standard laryngoscopy for intubation by pediatric residents in simulated easy and difficult infant airway scenarios

    Pediatric Emergency Care, Vol. 27, Núm. 5, pp. 398-402