Pediatría
Departamento
Hospital Universitario Nuestra Señora de Candelaria
Santa Cruz de Tenerife, EspañaPublicaciones en colaboración con investigadoras/es de Hospital Universitario Nuestra Señora de Candelaria (44)
2024
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
Scientific Reports, Vol. 14, Núm. 1
2023
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Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth
Thorax, Vol. 78, Núm. 3, pp. 233-241
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Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations
Pulmonology
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Human genetics influences microbiome composition involved in asthma exacerbations despite inhaled corticosteroid treatment
Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 3, pp. 799-806.e6
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The upper-airway microbiome as a biomarker of asthma exacerbations despite inhaled corticosteroid treatment
Journal of Allergy and Clinical Immunology, Vol. 151, Núm. 3, pp. 706-715
2022
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Multi-ancestry genome-wide association study of asthma exacerbations
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 33, Núm. 6, pp. e13802
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Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries – A study by the Joint Action on Rare Cancers
Cancer Epidemiology, Vol. 78
2021
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Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)
Orphanet Journal of Rare Diseases
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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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Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use
European Respiratory Journal, Vol. 57, Núm. 5
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Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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A multicenter national survey of children with SARS-CoV-2 infection admitted to Spanish Pediatric Intensive Care Units
Intensive Care Medicine
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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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Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11
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Recurrent wheezing during the first 3 years of life in a birth cohort of moderate-to-late preterm infants
Pediatric Allergy and Immunology, Vol. 31, Núm. 2, pp. 124-132
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Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica
Frontiers in Pediatrics, Vol. 8
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The genomics and metagenomics of asthma severity (GEMAS) study: Rationale and design
Journal of Personalized Medicine, Vol. 10, Núm. 3, pp. 1-16
2019
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ECLIM-SEHOP, a new platform to set up and develop international academic clinical trials for childhood cancer and blood disorders in Spain
Clinical and Translational Oncology, Vol. 21, Núm. 12, pp. 1763-1770
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Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798