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- Desenvolvimento de abordagens terapêuticas de RNA em Doenças Lisossomais de SobrecargaPublication . Sandra, AlvesSobre o desenvolvimento de abordagens terapêuticas de RNA em Doenças Lisossomais de Sobrecarga.
- Novos biomarcadores nas DLS´s: O que eles nos dizemPublication . Gaspar, Paulo; Rocha, Hugo; Alves, Sandra; Vilarinho, LauraComunicação sobre os novos biomarcadores nas Doenças Lisossomais de Sobrecarga, do diagnóstico ao follow-up.
- Early Diagnosis of Mucopolysaccharidoses in PediatricsPublication . da Silva Gaspar, Paulo Jorge Miranda; Neiva, Raquel; Sousa e Silva, Lisbeth Elena; Diogo, Luisa; Ferreira, A.; Miranda, A.; Ribeiro, S.; Antunes, D.; Garcia, P.; Rodrigues, E.; Campos, T.; Janeiro, P.; Lopes, Altina; Pereira, Cristina; Nogueira, Célia; Sousa, S.; Ferreira, S.; Alves, Sandra; Leão Teles, Elisa; Vilarinho, LauraIntroduction: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years or even missed. The FIND PROJECT was designed to claim awareness to the redflags of MPSs at pediatric age and to provide a useful tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy.
- Find Project: Results of 8 YearsPublication . da Silva Gaspar, Paulo Jorge Miranda; Neiva, Raquel; Sousa e Silva, Lisbeth Elena; Guimarães, Fábio; Diogo, Luisa; Ferreia, Ana Cristina; Miranda, Ana; Antunes, Diana; Louro, Pedro; Ribeiro, Sara; Garcia, Paula; Rodrigues, Esmeralda; Campos, Teresa; Janeiro, Patrícia; Sousa, Sérgio; Ferreira, Sara; Silva, Carmen; Lopes, Altina; Pereira, Cristina; Nogueira, Célia; Alves, Sandra; Leão Teles, Elisa; Vilarinho, LauraIntrodução e Objectivos: Mucopolysaccharidoses (MPSs) are a group of Lysosomal Storage Disorders with multisystem involvement, presenting different degrees of severity and evolution. At early disease stages and late onset forms, diagnosis can be postponed for years or even missed. The FIND PROJECT was designed to claim awareness to the red flags of MPSs at pediatric age and to provide an useful tool for physicians to diagnose these pathologies, since most of them are amenable to enzyme replacement therapy.