Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (36)

2024

  1. 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

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

    Scientific Reports, Vol. 14, Núm. 1

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

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

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

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

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

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

  4. Hypercalcemia in patients with mutations in NR3C2 and SCNN1B

    Medicina Clinica

  5. Pediatric renal lithiasis in Spain: research, diagnostic and therapeutic challenges, and perspectives

    Frontiers in Pediatrics, Vol. 11

2022

  1. 25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics

    Nutrients, Vol. 14, Núm. 9

  2. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 37, Núm. 10, pp. 1906-1915

  3. Flexible multiplex PCR to detect SARS-CoV-2, coronavirus OC43 and influenza A virus in nasopharyngeal swab samples

    Journal of Applied Microbiology, Vol. 133, Núm. 6, pp. 3534-3545

  4. Misidentification of the SARS-CoV-2 Mu variant using commercial mutation screening assays

    Archives of Virology, Vol. 167, Núm. 4, pp. 1141-1144

  5. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486

  6. Secondary Immunosuppression in Pediatric Kidney Transplant Recipients

    Experimental and Clinical Transplantation, Vol. 20, Núm. 3, pp. 258-264

2021

  1. Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas

    Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, Vol. 41, Núm. 4, pp. 383-390

  2. Erratum to ‘Markers for invasive bacterial infections in previously healthy children’ [American Journal of Emergency Medicine 48C (2021) 83–86] (American Journal of Emergency Medicine (2021) 48 (83–86), (S0735675721003077), (10.1016/j.ajem.2021.04.018))

    American Journal of Emergency Medicine

  3. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3045-3055

  4. Five patients with disorders of calcium metabolism presented with GCM2 gene variants

    Scientific Reports, Vol. 11, Núm. 1

  5. Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives

    Nefrologia, Vol. 41, Núm. 4, pp. 383-390