Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)

2024

  1. The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings

    International Journal of Molecular Sciences, Vol. 25, Núm. 16

  2. 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

2020

  1. Novel ndufa13 mutations associated with oxphos deficiency and leigh syndrome: A second family report

    Genes, Vol. 11, Núm. 8, pp. 1-13

2007

  1. BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor

    Clinica Chimica Acta, Vol. 380, Núm. 1-2, pp. 8-12