Pediatría
Servizo
Hospital for Sick Children
Toronto, CanadáPublicacións en colaboración con investigadores/as de Hospital for Sick Children (16)
2024
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2022
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Nasal Intermittent Positive Pressure Ventilation and Bronchopulmonary Dysplasia Among Very Preterm Infants Never Intubated During the First Neonatal Admission: A Multicenter Cohort Study
Frontiers in Pediatrics, Vol. 10
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Temporal trends in respiratory care and bronchopulmonary dysplasia in very preterm infants over a 10-year period in Spain
Archives of Disease in Childhood: Fetal and Neonatal Edition, Vol. 107, Núm. 2, pp. F143-F149
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Time at birth and short-term outcomes among extremely preterm infants in Spain: a multicenter cohort study
European Journal of Pediatrics, Vol. 181, Núm. 5, pp. 2067-2074
2020
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Brain, Vol. 143, Núm. 10, pp. 2929-2944
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Incidence, Treatment, and Outcome Trends of Necrotizing Enterocolitis in Preterm Infants: A Multicenter Cohort Study
Frontiers in Pediatrics, Vol. 8
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Scientific Reports, Vol. 10, Núm. 1
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Prevention, diagnosis and treatment of necrotising enterocolitis in newborns less than 32 weeks at birth in Spain
Anales de Pediatria, Vol. 93, Núm. 3, pp. 161-169
2019
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Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth
Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 10, pp. 1793-1800
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The Effect of Morbidity and Sex on Postnatal Growth of Very Preterm Infants: A Multicenter Cohort Study
Neonatology, Vol. 115, Núm. 4, pp. 348-354
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The impact of postnatal systemic steroids on the growth of preterm infants: A multicenter cohort study
Nutrients, Vol. 11, Núm. 11
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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
2015
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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
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Lower respiratory tract infection caused by respiratory syncytial virus: Current management and new therapeutics
The Lancet Respiratory Medicine, Vol. 3, Núm. 11, pp. 888-900
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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
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Nature Genetics, Vol. 44, Núm. 6, pp. 704-708