Pediatría
Departamento
Hospital de la Santa Creu i Sant Pau
Barcelona, EspañaPublicaciones en colaboración con investigadoras/es de Hospital de la Santa Creu i Sant Pau (29)
2024
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Correction in article by Juzga-Corrales et al. “Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)”, Rev Esp Cardiol. 2023;76:961-969 (Revista Española de Cardiología (English Edition) (2024) 77(4) (358–359), (S1885585724000331), (10.1016/j.rec.2023.12.011))
Revista Espanola de Cardiologia
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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
2023
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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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Autosomal dominant polycystic kidney disease in young adults
Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995
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Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)
Revista Espanola de Cardiologia, Vol. 76, Núm. 12, pp. 961-969
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GEMA 5.3. Spanish Guideline on the Management of Asthma
Open Respiratory Archives, Vol. 5, Núm. 4
2022
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Langerhans cell histiocytosis. Advances in pathogenesis and clinical practice
Anales de Pediatria, Vol. 97, Núm. 2, pp. 130.e1-130.e7
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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
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Spanish Asthma Management Guidelines (GEMA) VERSION 5.1. Highlights and Controversies
Archivos de Bronconeumologia
2021
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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GEMA5.0 - SPANISH GUIDELINE ON THE MANAGEMENT OF ASTHMA
Journal of investigational allergology & clinical immunology, Vol. 31, Núm. GEMA 50, pp. 1-130
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Highlights of the Spanish Asthma Guidelines (GEMA), version 5.0
Archivos de Bronconeumologia
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Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes
Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 66-75
2020
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Discrepancies Between GEMA and GINA in the Classification of Inhaled Corticosteroids
Archivos de Bronconeumologia
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Distinct molecular profile of IRF4-rearranged large B-cell lymphoma
Blood, Vol. 135, Núm. 4, pp. 274-286
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Initial report on Spanish pediatric oncologic, hematologic, and post stem cell transplantation patients during SARS-CoV-2 pandemic
Pediatric Blood and Cancer
2019
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Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia
Nature Medicine, Vol. 25, Núm. 9, pp. 1396-1401
2017
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Down syndrome as risk factor for respiratory syncytial virus hospitalization: A prospective multicenter epidemiological study
Influenza and other Respiratory Viruses, Vol. 11, Núm. 2, pp. 157-164
2016
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El Registro Molecular de Adenomas Hipofisarios (REMAH): una apuesta de futuro de la Endocrinología española por la medicina individualizada y la investigación traslacional
Endocrinología y nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición, Vol. 63, Núm. 6, pp. 274-284