Publicaciones en colaboración con investigadores/as de Hospital de Cruces (18)

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

2021

  1. Kidney function in patients with primary distal renal tubular acidosis

    Pediatric Nephrology, Vol. 36, Núm. 7, pp. 1931-1935

2020

  1. Incomplete distal renal tubular acidosis in children

    Acta Paediatrica, International Journal of Paediatrics, Vol. 109, Núm. 11, pp. 2243-2250

2019

  1. Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network

    Scientific Reports, Vol. 9, Núm. 1

  2. 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

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

  3. RenalTube: A network tool for clinical and genetic diagnosis of primary tubulopathies

    European Journal of Pediatrics, Vol. 172, Núm. 6, pp. 775-780

2011

  1. Growth of kidney-transplanted pediatric patients treated with sirolimus

    Pediatric Nephrology, Vol. 26, Núm. 6, pp. 961-966

2010

  1. Improvement in growth after 1 year of growth hormone therapy in well-nourished infants with growth retardation secondary to chronic renal failure: Results of a multicenter, controlled, randomized, open clinical trial

    Clinical Journal of the American Society of Nephrology, Vol. 5, Núm. 7, pp. 1190-1197

2008

  1. Diálisis peritoneal pediátrica en España: Análisis de supervivencia y datos epidemiológicos actuales

    Nefrologia

  2. Estado actual de la diálisis peritoneal crónica en la edad pediátrica: Prescripción, adecuación y complicaciones

    Nefrologia

2004

  1. Insuficiencia renal aguda en niños críticamente enfermos. Estudio preliminar

    Anales de Pediatria, Vol. 61, Núm. 6, pp. 509-514

1999

  1. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

    Nature Genetics, Vol. 21, Núm. 1, pp. 84-90

1998

  1. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 95, Núm. 11, pp. 6337-6342