Parisi, L. and Escher, R. (2020) “Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel <i>PUS1</i&gt; R144Q mutation, remarkable response to somatropin, and review of the literature”, Haematologica. Pavia, Italy. doi: 10.3324/haematol.2025.287393.