da Silva Gaspar, Paulo Jorge MirandaNeiva, RaquelSousa e Silva, Lisbeth ElenaVilarinho, Laura2026-03-032026-03-032025-10-30http://hdl.handle.net/10400.18/11049Introdução e Objectivos: Lysosomal storage disorders are a group of rare diseases that affect approximately 1 in 4,000 live births in Portugal (Pinto et al , 2004). They are characterized by multisystemic involvement and a wide range of phenotypical presentations, often overlapping with other diseases. As a result, many patients experience a lengthy process of seeking a correct diagnosis, known as the "diagnostic odyssey". To address this challenge, a new tandem mass spectrometry method has been developed for the urinary identification of both oligosaccharides and mucopolysaccharides(MPS).porLysosomal Storage DisordersMucopolysaccharidosisOligosaccharidosisDoenças Genéticasconference object