Publicaciones en colaboración con investigadores/as de University of Innsbruck (2)

2024

  1. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

    Brain, Vol. 147, Núm. 5, pp. 1653-1666

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