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Amedeo Smart

Independent Medical Education


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Parisi L, Escher R. Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1) : clinical hallmarks in a large pedigree with a novel PUS1 R144Q mutation, remarkable response to somatropin, and review of the literature. Haematologica 2025 May 29. doi: 10.3324/haematol.2025.287393.
PMID: 40438980


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