Publicaciones en colaboración con investigadores/as de Hospital Universitario de Valladolid (7)

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. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  2. TSH elevation in neonatal screening as the first manifestation of other associated diseases

    Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 4, pp. 297-299

2012

  1. Respuesta inmune respiratoria al año de vida en el niño prematuro

    Acta Pediatrica Espanola, Vol. 70, Núm. 4, pp. 135-140

2010

  1. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 4, pp. 1876-1888

2007

  1. Recomendaciones de la conferencia de consenso "manejo diagnóstico y terapéutico de las infecciones del tracto urinario en la infancia"

    Anales de Pediatria