da Silva Gaspar, Paulo Jorge MirandaGonçalves, DianaNeiva, RaquelSousa e Silva, Lisbeth ElenaVilarinho, Laura2026-02-042026-02-042025-03-27http://hdl.handle.net/10400.18/10805Introduction: Mucopolysaccharidosis (MPSs) and oligosaccharidosis, two subgroups of lysosomal storage disorders (LSDs), face diagnostic challenges due to their wide spectrum of clinical presentations and overlapping symptoms. One of the oligosaccharidose is α-mannosidosis, an extremely rare and often undiagnosed disorder. It is characterized by a deficiency in the enzymatic activity of α-mannosidase, which is responsible for cleaving mannose from N-linked oligosaccharides. This study aimed to investigate the activity of α-mannosidase in dried blood spot (DBS) samples that had undergone screening for MPSs.engMucopolysaccharidosis (MPSs)Lysosomal Storage DisordersOligosaccharidosisα-mannosidaseDoenças Genéticasconference object