Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency

Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinas...

Source: Orphanet Journal of Rare Diseases - February 1, 2024 Category: Internal Medicine Authors: Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe and Justin Hopkin Tags: Research Source Type: research