Publicacións en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (6)

2023

  1. Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

    Journal of Clinical Medicine, Vol. 12, Núm. 15

2018

  1. Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

    Medicine (United States), Vol. 97, Núm. 29

  2. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

    Molecular Genetics and Metabolism Reports, Vol. 15, pp. 116-120

2013

  1. Guía de prá ctica clínica para el tratamiento del síndrome de Hunter

    Medicina Clinica, Vol. 141, Núm. 10

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

2010

  1. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962