Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (2)

2021

  1. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

2012

  1. Neuronal ceroid lipofuscinosis: Diagnostic algorithm and clinical description of the finnish (CLN5) and turkish (CLN7) variants late infantile

    Revista de Neurologia, Vol. 54, Núm. 9, pp. 544-550