GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
Hospital Universitario La Fe
Valencia, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario La Fe (55)
2024
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
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Pulmonary function and bronchopulmonary dysplasia classification: insights from the Spanish Registry
European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3757-3766
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Searching molecular biomarkers correlating with BSID-III at 24 months in infants with neonatal hypoxic-ischemic encephalopathy
European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3933-3942
2023
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Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
Nutrients, Vol. 15, Núm. 16
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Care levels in neonatal units in Spain: An updated vision for a new reality
Anales de Pediatria, Vol. 98, Núm. 4, pp. 301-307
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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
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Failure of early non-invasive ventilation in preterm infants with respiratory distress syndrome in current care practice in Spanish level-III neonatal intensive care units – a prospective observational study
Frontiers in Pediatrics, Vol. 11
2022
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Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
International Journal of Molecular Sciences, Vol. 23, Núm. 21
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Postauthorization safety study of betaine anhydrous
Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733
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Recommendations for transfusion of blood products in neonatology
Anales de Pediatria, Vol. 97, Núm. 1, pp. 60.e1-60.e8
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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
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, Vol. 10
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
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Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA
International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22
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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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Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
2020
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
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The Influence of Donor Milk Supplementation on Duration of Parenteral Nutrition in Preterm Infants
Journal of Human Lactation, Vol. 36, Núm. 2, pp. 245-253