Cardoso, M.Chaves, P.C.Pintalhão, M.da Silva Gaspar, Paulo Jorge MirandaCastro, R.Bastos, J.Silva, A.Campos, T.Macedo, FatimaRodrigues, E.Leão Teles, Elisa2026-02-092026-02-092025-03-27http://hdl.handle.net/10400.18/10851Introduction: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive lysosomal storage disorder caused by variants in the SMPD1 gene, leading to a deficiency in the activity of sphingomyelinase (ASM) that catabolizes sphingomyelin (SPM). ASMD Type B is a late-onset, severe disease characterized by progressive hepatosplenomegaly, gradual deterioration of liver and pulmonary function, osteopenia and an atherogenic lipid profile. Olipudase alfa is a recombinant human ASM enzyme replacement therapy indicated for the treatment of non-C-NS manifestations of ASMD.engAcid Sphingomyelinase Deficiency (ASMD)Lysosomal Storage DisorderOlipudase AlfaDoenças Genéticasconference object