Publicacións en colaboración con investigadores/as de Hospital Universitario Pío del Río Hortega (34)

2024

  1. Correction in article by Juzga-Corrales et al. “Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)”, Rev Esp Cardiol. 2023;76:961-969 (Revista Española de Cardiología (English Edition) (2024) 77(4) (358–359), (S1885585724000331), (10.1016/j.rec.2023.12.011))

    Revista Espanola de Cardiologia

  2. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

2023

  1. Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)

    Revista Espanola de Cardiologia, Vol. 76, Núm. 12, pp. 961-969

  2. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

  3. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain

    European Journal of Pediatrics, Vol. 182, Núm. 1, pp. 307-317

  4. Nutrition in congenital heart disease: Consensus document

    Anales de Pediatria, Vol. 98, Núm. 5, pp. 373-383

2022

  1. Risk factors and bronchopulmonary dysplasia severity: data from the Spanish Bronchopulmonary Dysplasia Research Network

    European Journal of Pediatrics, Vol. 181, Núm. 2, pp. 789-799

  2. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Paradigmatic de novo grin1 variants recapitulate pathophysiological mechanisms underlying grin1‐related disorder clinical spectrum

    International Journal of Molecular Sciences, Vol. 22, Núm. 23

  2. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

2020

  1. Maternal, Perinatal and Neonatal Outcomes With COVID-19: A Multicenter Study of 242 Pregnancies and Their 248 Infant Newborns During Their First Month of Life

    Pediatric Infectious Disease Journal, Vol. 39, Núm. 12, pp. E393-E397

  2. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

  3. Predictors of response to exclusive enteral nutrition in newly diagnosed crohn’s disease in children: PRESENCE Study from SEGHNP

    Nutrients, Vol. 12, Núm. 4

2019

  1. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911

  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, Vol. 42, Núm. 2, pp. 333-352

2018

  1. Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain

    Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221

  2. Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

    Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413

  3. Comments by the Spanish Society for Paediatric Cardiology and Congenital Heart diseases on the recommendations by the Spanish Neonatology Society as regards screening for critical congenital heart diseases in the neonatal period

    Anales de Pediatria

  4. 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

2016

  1. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744