Publicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (41)

2024

  1. Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

2023

  1. A Study of the Prevalence of Asthma in the General Population in Spain

    Open Respiratory Archives, Vol. 5, Núm. 2

  2. A second update on mapping the human genetic architecture of COVID-19

    Nature

  3. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

  4. Importance of the vaporization margin during CO2 laser treatment of oral leukoplakia: A survival study

    Oral Diseases, Vol. 29, Núm. 7, pp. 2689-2695

  5. Ocular involvement in adult and paediatric patients with monogenic autoinflammatory diseases: a Spanish multicentre retrospective study

    Clinical and experimental rheumatology, Vol. 41, Núm. 10, pp. 2105-2114

  6. Prevalence of acute oral mucosal damage secondary to the use of systemic antineoplastics: A systematic review and meta-analysis

    Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, Vol. 135, Núm. 3, pp. 385-395

  7. Protein-based salivary biomarkers for the diagnosis of periodontal diseases: Systematic review and meta-analysis

    Journal of Taibah University Medical Sciences, Vol. 18, Núm. 4, pp. 737-747

2022

  1. Inhibition of ATG3 ameliorates liver steatosis by increasing mitochondrial function

    Journal of Hepatology, Vol. 76, Núm. 1, pp. 11-24

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  4. Synergism interaction between genetic polymorphisms in drug metabolizing enzymes and NSAIDs on upper gastrointestinal haemorrhage: a multicenter case-control study

    Annals of medicine, Vol. 54, Núm. 1, pp. 379-392

  5. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

  6. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. A multicenter case–control study of the effect of e-nos VNTR polymorphism on upper gastrointestinal hemorrhage in NSAID users

    Scientific Reports, Vol. 11, Núm. 1

  2. Effectiveness of a multicomponent intervention in primary care that addresses patients with diabetes mellitus with two or more unhealthy habits, such as diet, physical activity or smoking: Multicenter randomized cluster trial (eira study)

    International Journal of Environmental Research and Public Health, Vol. 18, Núm. 11

  3. Rp11-362k2.2:Rp11-767i20.1 genetic variation is associated with post-reperfusion therapy parenchymal hematoma. a gwas meta-analysis

    Journal of Clinical Medicine, Vol. 10, Núm. 14

  4. Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma

    Brain, Vol. 144, Núm. 8, pp. 2416-2426

  5. The L-α-Lysophosphatidylinositol/G Protein–Coupled Receptor 55 System Induces the Development of Nonalcoholic Steatosis and Steatohepatitis

    Hepatology, Vol. 73, Núm. 2, pp. 606-624

  6. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414