Sirolimus therapy in Sturge-Weber syndrome: a case study of epilepsy management and developmental progress in a 3-year-old patient
Faculty of Medicine, Collegium Medicum, Cardinal Stefan Wyszyński University in Warsaw, Poland
Department of Neurology and Epileptology, Children’s Memorial Health Institute, Warsaw, Poland
Folia Neuropathol 2026; 64 (2)
Data publikacji online: 2026/08/03
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