Publicacións en colaboración con investigadores/as de Boston Children's Hospital (14)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2023

  1. Early post-operative neurodevelopment and visual assessment in neonates with congenital heart disease undergoing cardiac surgery

    Journal of Perinatology, Vol. 43, Núm. 7, pp. 856-863

2022

  1. Galactose epimerase deficiency: lessons from the GalNet registry

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

2020

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

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Combined bilateral lung transplantation and congenital heart disease repair in a pediatric patient

    Cirugia Cardiovascular, Vol. 26, pp. 52-55

  2. Successful Combined Bilateral Lung Transplant and Congenital Heart Disease Repair in a Pediatric Patient

    Revista Espanola de Cardiologia, Vol. 72, Núm. 10, pp. 882-884

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

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

  4. 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

2017

  1. 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. 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

2012

  1. Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes

    Journal of Inherited Metabolic Disease, Vol. 35, Núm. 6, pp. 1037-1049

  2. Erratum: Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes (J Inherit Metab Dis DOI 10.1007/s10545-012-9477-y)

    Journal of Inherited Metabolic Disease