2022

1. Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

   Genes, Vol. 13, Núm. 10

2. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

   Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 728-735