Pediatría
Servizo
Hospital de São João
Oporto, PortugalPublicacións en colaboración con investigadores/as de Hospital de São João (22)
2023
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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185
2020
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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
2019
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Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
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Preventing bronchopulmonary dysplasia: new tools for an old challenge
Pediatric Research, Vol. 85, Núm. 4, pp. 432-441
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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
2018
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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
Journal of Inherited Metabolic Disease
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Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
Journal of Inherited Metabolic Disease
2016
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Journal of Inherited Metabolic Disease, Vol. 39, Núm. 5, pp. 661-672
2015
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (J Inherit Metab Dis, 10.1007/s10545-015-9839-3)
Journal of Inherited Metabolic Disease
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (J Inherit Metab Dis, 10.1007/s10545-015-9840-x)
Journal of Inherited Metabolic Disease
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Long-term evolution after in-hospital cardiac arrest in children: Prospective multicenter multinational study
Resuscitation, Vol. 96, pp. 126-134
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1041-1057
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Journal of Inherited Metabolic Disease, Vol. 38, Núm. 6, pp. 1059-1074
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Utilización de medidas de tromboprofilaxis en niños críticamente enfermos en España y Portugal
Anales de Pediatria, Vol. 82, Núm. 3, pp. 144-151
2014
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Cardiac arrest and resuscitation in the pediatric intensive care unit: A prospective multicenter multinational study
Resuscitation, Vol. 85, Núm. 10, pp. 1380-1386
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Infections, antibiotic treatment and mortality in patients admitted to ICUs in countries considered to have high levels of antibiotic resistance compared to those with low levels
BMC Infectious Diseases, Vol. 14, Núm. 1
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Post return of spontaneous circulation factors associated with mortality in pediatric in-hospital cardiac arrest: A prospective multicenter multinational observational study
Critical Care, Vol. 18, Núm. 6
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Shockable rhythms and defibrillation during in-hospital pediatric cardiac arrest
Resuscitation, Vol. 85, Núm. 3, pp. 387-391
2013
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Regional experience and high incidence of carnitine deficiency
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1
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Predicting non-invasive ventilation failure in children from the SpO 2/FiO2 (SF) ratio
Intensive Care Medicine, Vol. 39, Núm. 6, pp. 1095-1103