Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biobizkaia (24)

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

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

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

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

  3. Hypercalcemia in patients with mutations in NR3C2 and SCNN1B

    Medicina Clinica

  4. 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. 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. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

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

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

    Scientific Reports, Vol. 11, Núm. 1

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

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

  5. Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3133-3142

2020

  1. Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 4

  2. Hypophosphataemic Rickets: Similar Phenotype of Different Diseases

    Advances in Therapy, Vol. 37, pp. 80-88

  3. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

  4. Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

    PLoS ONE, Vol. 15, Núm. 9 September

  5. Response to Letter to the Editor: "Forty-One Individuals with Mutations in the AVP-NPII Gene Associated with Familial Neurohypophyseal Diabetes Insipidus

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 7