Publications by the researcher in collaboration with Isidro Vitoria Miñana (6)

2023

  1. 7. Apéndice

    Tratamiento nutricional de los errores innatos del metabolismo (Ergon), pp. 331-336

  2. Tratamiento nutricional de los errores innatos del metabolismo

    Ergon

2022

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

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

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2018

  1. Protocolo de diagnóstico y tratamiento de los errores congénitos del metabolismo de la galactosa

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 111-124

2014

  1. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Orphanet journal of rare diseases, Vol. 9, pp. 187