Publicaciones en colaboración con investigadores/as de Hospital Universitario de Donostia (22)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. Human Colonic Organ Culture Reveals XPO1-Independent Ability of Salvianolic Acid to Reduce Ulcerative Colitis–Related Inflammation

    Gastro Hep Advances

  3. m6A Methylated Long Noncoding RNA LOC339803 Regulates Intestinal Inflammatory Response

    Advanced Science, Vol. 11, Núm. 13

2023

  1. Inhibition of YTHDF1 by salvianolic acid overcomes gluten-induced intestinal inflammation

    Gut

  2. Intestinal permeability assessment using lactulose and mannitol in celiac disease

    Methods in cell biology, Vol. 179, pp. 39-50

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. E2F1 and E2F2-mediated repression of CPT2 establishes a lipid-rich tumor-promoting environment

    Cancer Research, Vol. 81, Núm. 11, pp. 2874-2887

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Management and serious risk factors associated with unintentional injuries in paediatric emergencies in Spain

    Anales de Pediatria, Vol. 92, Núm. 3, pp. 132-140

2017

  1. International variability in gastrointestinal decontamination with acute poisonings

    Pediatrics, Vol. 140, Núm. 2

  2. Prehospital management of acute childhood poisoning in Spain

    Emergencias, Vol. 29, Núm. 3, pp. 178-181

  3. Prevalence of diabetes mellitus and impaired glucose metabolism in the adult population of the Basque Country, Spain

    Diabetic Medicine, Vol. 34, Núm. 5, pp. 662-666

2015

  1. Epidemiology of asthma exacerbations and their relation with environmental factors in the Basque Country

    Clinical and Experimental Allergy, Vol. 45, Núm. 6, pp. 1099-1108

2014

  1. Accuracy of a sequential approach to identify young febrile infants at low risk for invasive bacterial infection

    Emergency Medicine Journal, Vol. 31, Núm. e1, pp. e19-e24

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Diagnostic performance of the Lab-score in predicting severe and invasive bacterial infections in well-appearing young febrile infants

    Pediatric Infectious Disease Journal, Vol. 31, Núm. 12, pp. 1239-1244

  3. Diagnostic value of procalcitonin in well-appearing young febrile infants

    Pediatrics, Vol. 130, Núm. 5, pp. 815-822

  4. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

2011

  1. Hipercalcemia hipocalciúrica familiar: A propósito de una nueva mutación

    Anales de Pediatria, Vol. 74, Núm. 1, pp. 47-50

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962