Publicaciones en colaboración con investigadoras/es de Hospital Universitario La Fe (25)

2023

  1. Autosomal dominant polycystic kidney disease in young adults

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

  2. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

  3. Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 9, pp. 2193-2202

2022

  1. 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

  2. Consensus guide on prophylactic gonadectomy in different sex development

    Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 8, pp. 629-645

  3. Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study

    Journal of Endocrinological Investigation

  4. Factors associated with therapeutic response in acromegaly diagnosed in the elderly in Spain

    Frontiers in Endocrinology, Vol. 13

  5. Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study

    European Thyroid Journal, Vol. 11, Núm. 5

  6. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  7. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2020

  1. Hypophosphataemic Rickets: Similar Phenotype of Different Diseases

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

2019

  1. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

    Frontiers in Immunology, Vol. 10

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Recommendations for the prevention of foreign body aspiration

    Anales de Pediatria, Vol. 86, Núm. 1, pp. 50.e1-50.e6

2014

  1. Escape and lipodystrophy in acromegaly during pegvisomant therapy, a retrospective multicentre Spanish study

    Clinical Endocrinology, Vol. 81, Núm. 6, pp. 883-890

2013

  1. Changes in acromegaly treatment over four decades in Spain: Analysis of the Spanish Acromegaly Registry (REA)

    Pituitary, Vol. 16, Núm. 1, pp. 115-121

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

  3. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 7

2011

  1. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

    Nature Genetics, Vol. 43, Núm. 12, pp. 1193-1201