Publicaciones en colaboración con investigadoras/es de Instituto de Investigación Sanitaria Biocruces Bizkaia (209)

2024

  1. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

  2. Increase in scabies consultations in Pediatric Emergency Department

    Piel

  3. Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1

    Kidney International Reports, Vol. 9, Núm. 1, pp. 114-133

  4. Performance of Febrile Infant Algorithms by Duration of Fever

    Pediatrics, Vol. 153, Núm. 5

  5. The ECHO recommendations for dealing with vinblastine shortage affecting standard treatment of systemic Langerhans cell histiocytosis

    Pediatric Blood and Cancer

  6. Use of rasburicase to improve kidney function in children with hyperuricemia and acute kidney injury

    Clinical and Experimental Nephrology, Vol. 28, Núm. 1, pp. 13-22

2023

  1. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  2. Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

    Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724

  3. Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1341-e1346

  4. Characteristics of Pediatric Emergency Department Presentations of Anaphylaxis in Spain

    Pediatric Emergency Care, Vol. 39, Núm. 10, pp. 755-759

  5. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507

  6. Core outcomes and factors influencing the experience of care for children with severe acute exacerbations of asthma: a qualitative study

    BMJ Open Respiratory Research, Vol. 10, Núm. 1

  7. 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

  8. Decoding the molecular heterogeneity of pediatric monomorphic post–solid organ transplant lymphoproliferative disorders

    Blood, Vol. 142, Núm. 5, pp. 434-445

  9. Factors associated with salbutamol overuse in bronchiolitis

    European Journal of Pediatrics, Vol. 182, Núm. 9, pp. 4237-4245

  10. Febrile Urinary Tract Infection in Infants Less Than 3 Months of Age

    The Pediatric infectious disease journal, Vol. 42, Núm. 8, pp. e278-e282

  11. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

  12. Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

    Scientific reports, Vol. 13, Núm. 1, pp. 12587

  13. How do hospitalised children die? The context of death and end-of-life decision-making

    Journal of Paediatrics and Child Health, Vol. 59, Núm. 4, pp. 625-630

  14. Hypercalcemia in patients with mutations in NR3C2 and SCNN1B

    Medicina Clinica