Publicacións en colaboración con investigadores/as de Hospital Ramón y Cajal (9)

2024

  1. Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition

    Nutrients, Vol. 16, Núm. 1

  2. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

  1. Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

    Nutrients, Vol. 14, Núm. 13

  2. Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  3. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2016

  1. Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

    Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7

2006

  1. Cerebellar ataxia of Norman-Jaeken. Presentation of seven Spanish patients

    Revista de Neurologia, Vol. 42, Núm. 12, pp. 723-728