Publicaciones en colaboración con investigadores/as de Hospital Universitario Son Espases (19)

2024

  1. 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

  2. Serum and Urine Metabolomic Profiling of Newly Diagnosed Treatment-Naïve Inflammatory Bowel Disease Patients

    Inflammatory Bowel Diseases, Vol. 30, Núm. 2, pp. 167-182

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Characteristics and management of patients with SARS-CoV2 infection admitted to pediatric intensive care units: Data analysis of the Spanish national multicenter registry

    Pediatric Pulmonology, Vol. 58, Núm. 10, pp. 2916-2929

  3. Contraindications to sports participation. Spanish Society of Sports Medicine (SEMED) Consensus Document. Version 2023

    Archivos de Medicina del Deporte, Vol. 40, Núm. 5, pp. 248-279

  4. Effectiveness and Safety of Ustekinumab in Elderly Patients with Crohn's Disease: Real World Evidence From the ENEIDA Registry

    Journal of Crohn's & colitis, Vol. 17, Núm. 1, pp. 83-91

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  2. 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

2021

  1. COVID-19 in children with neuromuscular disorders

    Journal of neurology, Vol. 268, Núm. 9, pp. 3081-3085

  2. Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  3. Obstetric Outcomes of SARS-CoV-2 Infection in Asymptomatic Pregnant Women

    Viruses, Vol. 13, Núm. 1

  4. The association between SARS-CoV-2 infection and preterm delivery: a prospective study with a multivariable analysis

    BMC Pregnancy and Childbirth, Vol. 21, Núm. 1

2020

  1. A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units

    Intensive Care Medicine

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

    Nutrients, Vol. 12, Núm. 4

2018

  1. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

    BMC Medical Genomics, Vol. 11, Núm. 1

  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

2013

  1. Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): Implementation rates and observed trends during the past 8 years

    European Journal of Clinical Nutrition, Vol. 67, Núm. 4, pp. 318-323

2011

  1. Consensus on paediatric enteral nutrition access: A document approved by SENPE/SEGHNP/ANECIPN/SECP

    Nutricion Hospitalaria, Vol. 26, Núm. 1, pp. 1-15

2006

  1. Nutrición enteral domiciliaria en España. Resultados del registro de la Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica del año 2003

    Anales de Pediatria, Vol. 64, Núm. 3, pp. 239-243