Publicaciones en colaboración con investigadores/as de Hospital de Cruces (22)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

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

2014

  1. Pediatricians' attitudes and costs of bronchiolitis in the emergency department: A prospective multicentre study

    Pediatric Pulmonology, Vol. 49, Núm. 10, pp. 1011-1019

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

2003

  1. Renin-angiotensin system polymorphisms and renal scarring

    Pediatric Nephrology, Vol. 18, Núm. 2, pp. 110-114

1999

  1. Multiple endocrine neoplasia type 1 (MEN1): Clinical heterogeneity in a large family with a nonsense mutation in the MEN1 gene (Trp471Stop)

    Clinical Endocrinology, Vol. 50, Núm. 3, pp. 309-313