Publicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (30)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study

    European Journal of Endocrinology, Vol. 190, Núm. 6, pp. 421-433

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

2021

  1. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

2020

  1. Hypophosphataemic Rickets: Similar Phenotype of Different Diseases

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

  2. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

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

  2. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

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