Publicacions en col·laboració amb investigadors/es de Hospital General Universitario Gregorio Marañón (7)

2024

  1. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

    Biomedicines, Vol. 11, Núm. 10

2022

  1. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

    JIMD Reports, Vol. 63, Núm. 2, pp. 146-161

  2. Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns

    Journal of Pediatric Endocrinology and Metabolism, Vol. 35, Núm. 10, pp. 1223-1231

2021

  1. GLUT1 and COVID-19 deficiency syndrome

    Endocrinologia, Diabetes y Nutricion, Vol. 68, Núm. 7, pp. 514-515

2020

  1. Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid

    Revista espanola de salud publica, Vol. 94

2018

  1. Four years’ experience in the diagnosis of very long-chain acyl-coa dehydrogenase deficiency in infants detected in three spanish newborn screening centers

    JIMD Reports (Springer), pp. 63-74