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The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders
| Nome: | Descrição: | Tamanho: | Formato: | |
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| 1.96 MB | Adobe PDF |
Orientador(es)
Resumo(s)
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.
Descrição
Palavras-chave
Genetic Disorders Mucopolysaccharidoses Glycosaminoglycans Lysosomal Storage Diseases Genética Humana Doenças Genéticas