Publicaciones (39) Publicaciones de LEIRE MADARIAGA DOMÍNGUEZ

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. Genetic profile of a large Spanish cohort with hypercalcemia

    Frontiers in Endocrinology, Vol. 15

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

    Scientific Reports, Vol. 14, Núm. 1

  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. Autosomal dominant polycystic kidney disease in young adults

    Clinical Kidney Journal, Vol. 16, Núm. 6, pp. 985-995

  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

  6. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

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. Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)

    Orphanet Journal of Rare Diseases

  3. Diabetes insípida nefrogénica

    Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 269-274

  4. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

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

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

    Scientific Reports, Vol. 11, Núm. 1

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

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

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

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