Publicaciones en colaboración con investigadores/as de Hospital Clinic Barcelona (39)

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. Exploring the genetics of airflow limitation in lung function across the lifespan – a polygenic risk score study

    eClinicalMedicine, Vol. 75

  3. Immunogenicity of a third dose with mRNA-vaccines in the ChAdOx1-S/BNT162b2 vaccination regimen against SARS-CoV-2 variants

    iScience, Vol. 27, Núm. 9

  4. Long term outcomes of pituitary adenomas in Multiple Endocrine Neoplasia type 1: a nationwide study

    Frontiers in Endocrinology, Vol. 15

2023

  1. Physical activity patterns in type 1 diabetes in Spain: The SED1 study

    BMC Sports Science, Medicine and Rehabilitation, Vol. 15, Núm. 1

2022

  1. Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

    Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261

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

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

2021

  1. Fatty liver index as a predictor for type 2 diabetes in subjects with normoglycemia in a nationwide cohort study

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Ambient temperature and prevalence of diabetes and insulin resistance in the Spanish population: Di@bet.es study

    European Journal of Endocrinology, Vol. 180, Núm. 5, pp. 275-282

2018

  1. Iron deficiency is associated with Hypothyroxinemia and Hypotriiodothyroninemia in the Spanish general adult population: Di@bet.es study

    Scientific Reports, Vol. 8, Núm. 1

2017

  1. Population-Based National Prevalence of Thyroid Dysfunction in Spain and Associated Factors: Study

    Thyroid, Vol. 27, Núm. 2, pp. 156-166

  2. Reference values for TSH may be inadequate to define hypothyroidism in persons with morbid obesity: Di@bet.es study

    Obesity, Vol. 25, Núm. 4, pp. 788-793

2016

  1. Low physical activity and its association with diabetes and other cardiovascular risk factors: A nationwide, population-based study

    PLoS ONE, Vol. 11, Núm. 8

2015

  1. Cholestane-3β,5α,6β-triol: High levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

    Journal of Lipid Research, Vol. 56, Núm. 10, pp. 1926-1935

  2. Estimating cardiovascular risk in Spain by the European guidelines on cardiovascular disease prevention in clinical practice

    Revista Espanola de Cardiologia, Vol. 68, Núm. 5, pp. 417-425

2014

  1. Ambient temperature and prevalence of obesity in the spanish population: The di@bet.es study

    Obesity, Vol. 22, Núm. 11, pp. 2328-2332

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

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

  3. Investigación en urgencias pediátricas

    Anales de Pediatria

  4. Modifications of the homeostasis model assessment of insulin resistance index with age

    Acta Diabetologica, Vol. 51, Núm. 6, pp. 917-925