Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (12)

2022

  1. 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

  2. RICORS2040: The need for collaborative research in chronic kidney disease

    Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387

2021

  1. Distal renal tubular acidosis: ERKNet/ESPN clinical practice points

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 36, Núm. 9, pp. 1585-1596

2019

  1. Effects of long-term cysteamine treatment in patients with cystinosis

    Pediatric Nephrology, Vol. 34, Núm. 4, pp. 571-578

  2. Management of bone disease in cystinosis: Statement from an international conference

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 5, pp. 1019-1029

  3. Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

    Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086

2017

  1. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

    PLoS ONE, Vol. 12, Núm. 3

2016

  1. Primary distal renal tubular acidosis: Novel findings in patients studied by next-generation sequencing

    Pediatric Research, Vol. 79, Núm. 3, pp. 496-501

2015

  1. Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: Successful in children and a challenge in adolescents and adults

    Nephrology Dialysis Transplantation, Vol. 30, Núm. 3, pp. 475-480

  2. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

    European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385

2013

  1. Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

    PLoS ONE, Vol. 8, Núm. 1

  2. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

    PLoS ONE, Vol. 8, Núm. 9