Grupo de Investigación de Endocrinología, Diabetes, Nutrición, alteraciones Renales y Salud Infantil - GIC 21/144
Publications (279) Publications in which a researcher has participated View referenced research data.
2025
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Asesoramiento genético en la era de la secuenciación masiva
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 102, Núm. 1
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Autoimmune Type 1 Diabetes: An Early Approach Appraisal for Spain by the AGORA Diabetes Collaborative Group
Journal of Clinical Medicine, Vol. 14, Núm. 2
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Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment
Journal of Inherited Metabolic Disease, Vol. 48, Núm. 1
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Infecciones bacterianas invasivas en lactantes febriles menores de 3 meses tras la pandemia
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 102, Núm. 1
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Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
Journal of Inherited Metabolic Disease, Vol. 48, Núm. 1
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Pulmonary aspiration after activated charcoal in unintentional acute poisonings in childhood
Archives of Disease in Childhood
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The Interactive Effects of Fruit Intake Frequency and Serum miR-484 Levels as Biomarkers for Incident Type 2 Diabetes in a Prospective Cohort of the Spanish Adult Population: The Di@bet.es Study
Biomedicines, Vol. 13, Núm. 1
2024
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A Novel, Noninvasive Method to Diagnose Active Eosinophilic Esophagitis, Combining Clinical Data and Oral Cavity RNA Levels
Clinical Gastroenterology and Hepatology
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A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions
Nature Communications, Vol. 15, Núm. 1
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A novel long non-coding RNA connects obesity to impaired adipocyte function
Molecular Metabolism, Vol. 90
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Analysis of guideline recommendations for treatment of asthma exacerbations in children: a Pediatric Emergency Research Networks (PERN) study
Archives of Disease in Childhood, Vol. 109, Núm. 6, pp. 468-475
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Avulsion of Permanent Teeth in the Pediatric Emergency Department
Pediatric Emergency Care
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Characteristics of oncology patients with fever and invasive bacterial infections diagnosed
Acta Paediatrica, International Journal of Paediatrics, Vol. 113, Núm. 12, pp. 2550-2555
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Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)
Genes, Vol. 15, Núm. 1
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Colonic adenomatous polyp with florid presence of monoclonal lambda Russell bodies: Case report and etiopathogenic hypothesis
Revista Espanola de Patologia, Vol. 57, Núm. 2, pp. 111-115
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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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Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant
Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336
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Disruptore endokrinoek eragiten al dute endometriosian? Berrikuspen sistematikoa
Ekaia: Euskal Herriko Unibertsitateko zientzi eta teknologi aldizkaria, Núm. 45, pp. 11-34
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Drug-delivery and biological activity in colorectal cancer of a supramolecular porous material assembled from heptameric chromium-copper-adenine entities
Journal of Materials Chemistry B, Vol. 12, Núm. 43, pp. 11156-11164
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Evaluating the association between placenta DNA methylation and cognitive functions in the offspring
Translational Psychiatry, Vol. 14, Núm. 1