GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
Hospital Vall d'Hebron
Barcelona, EspañaPublicacións en colaboración con investigadores/as de Hospital Vall d'Hebron (30)
2022
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Perinatal palliative care
Anales de Pediatria, Vol. 96, Núm. 1, pp. 60.e1-60.e7
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The Consensus Definition of Bronchopulmonary Dysplasia Is an Adequate Predictor of Lung Function at Preschool Age
Frontiers in Pediatrics, Vol. 10
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, Vol. 10
2021
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
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Gene therapy for neuronopathic mucopolysaccharidoses: State of the art
International Journal of Molecular Sciences, Vol. 22, Núm. 17
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Recommendations on the skills profile and standards of the neonatal transport system in Spain
Anales de Pediatria, Vol. 94, Núm. 6, pp. 420.e1-420.e11
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Sedoanalgesia in neonatal units
Anales de Pediatria, Vol. 95, Núm. 2, pp. 126.e1-126.e11
2020
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Home births: A growing phenomenon with potential risks
Anales de Pediatria, Vol. 93, Núm. 4, pp. 266.e1-266.e6
2019
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39
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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
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Topiramate plus cooling for hypoxic-ischemic encephalopathy: A randomized, controlled, multicenter, double-blinded trial
Neonatology, Vol. 116, Núm. 1, pp. 76-84
2018
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Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
Molecular Genetics and Metabolism Reports, Vol. 15, pp. 116-120
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Oxidative stress in perinatal asphyxia and hypoxic-ischaemic encephalopathy
Anales de Pediatria, Vol. 88, Núm. 4, pp. 228.e1-228.e9
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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
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Transición desde la asistencia pediátrica a la adulta en pacientes con mucopolisacaridosis
Revista Clinica Espanola, Vol. 218, Núm. 1, pp. 17-21
2017
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Evolution of energy related metabolites in plasma from newborns with hypoxic-ischemic encephalopathy during hypothermia treatment
Scientific Reports, Vol. 7, Núm. 1
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¿Cuál es la nutrición que administramos a nuestros recién nacidos de muy bajo peso en las unidades neonatales?: Una encuesta nacional
Nutricion Hospitalaria, Vol. 34, Núm. 5, pp. 1067-1072
2016
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Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
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Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso
Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7