Autor(es): Carvalho, S. ; Santos, J.I. ; Moreira, L. ; Gaspar, P. ; Gonçalves, M. ; Encarnação, M. ; Ribeiro, D. ; Duarte, A. ; Prata, M.J. ; Coutinho, M.F. ; Alves, Sandra
Data: 2023
Identificador Persistente: http://hdl.handle.net/10400.18/9149
Origem: Repositório Científico do Instituto Nacional de Saúde
Assunto(s): Genetic Disorders; Mucopolysaccharidoses; Glycosaminoglycans; Lysosomal Storage Diseases; Genética Humana; Doenças Genéticas
The problem we are addressing: Despite extensive research, the links between accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of Mucopolysaccharidoses (MPSs) have yet to be further elucidated. These Lysosomal Storage Diseases (LSDs) present symptoms, which may (or may not) include critical musculoskeletal and cardiovascular alterations, respiratory problems, and serious neurological dysfunctions. The skeletal and brain systems are the hardest ones to access and, consequently, those in greatest need of additional knowledge and novel therapeutic solutions.
