GI-1345 Medicina Neonatal e do Desarrollo
GI-1345
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Hospital Universitario Marqués de Valdecilla
Santander, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario Marqués de Valdecilla (26)
2024
2023
2022
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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
2021
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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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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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Summary of Recommendations and Key Points of the Consensus of Spanish Scientific Societies (SEPAR, SEMICYUC, SEMES; SECIP, SENEO, SEDAR, SENP) on the Use of Non-Invasive Ventilation and High-Flow Oxygen Therapy with Nasal Cannulas in Adult, Pediatric, and Neonatal Patients With Severe Acute Respiratory Failure
Archivos de Bronconeumologia, Vol. 57, Núm. 6, pp. 415-427
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Summary of recommendations and key points of the consensus of Spanish scientific societies (SEPAR, SEMICYUC, SEMES; SECIP, SENEO, SEDAR, SENP) on the use of non-invasive ventilation and high-flow oxygen therapy with nasal cannulas in adult, pediatric, and neonatal patients with severe acute respiratory failure
Medicina Intensiva, Vol. 45, Núm. 5, pp. 298-312
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Treatment adherence in tyrosinemia type 1 patients
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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Bone status in patients with phenylketonuria: A systematic review
Nutrients, Vol. 12, Núm. 7, pp. 1-15
2019
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Cribado neonatal
Pediatria Integral, Vol. 23, Núm. 3, pp. 169.e1-169.e10
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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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Septo-optic dysplasia caused by a novel FLNA splice site mutation: A case report
BMC Medical Genetics, Vol. 20, Núm. 1
2018
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Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain
Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221
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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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Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening
Medicine (United States), Vol. 97, Núm. 32
2016
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Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria
Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744
2015
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6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype
Molecular Genetics and Metabolism, Vol. 115, Núm. 1, pp. 10-16
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Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]
Molecular Genetics and Metabolism
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Manejo de la sedación y la analgesia en unidades de cuidados intensivos neonatales españolas
Anales de Pediatria, Vol. 83, Núm. 2, pp. 75-84
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Phenylketonuria's impact on physical growth in a Spanish cohort
Phenylalanine: Dietary Sources, Functions and Health Effects (Nova Science Publishers, Inc.), pp. 27-48