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- 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.
- Olipudase alfa enzyme replacement therapy. One-year outcomes in an adult patient with acid sphingomyelinase deficiency type BPublication . Cardoso, M.; Chaves, P.C.; Pintalhão, M.; da Silva Gaspar, Paulo Jorge Miranda; Castro, R.; Bastos, J.; Silva, A.; Campos, T.; Macedo, Fatima; Rodrigues, E.; Leão Teles, ElisaIntroduction: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive lysosomal storage disorder caused by variants in the SMPD1 gene, leading to a deficiency in the activity of sphingomyelinase (ASM) that catabolizes sphingomyelin (SPM). ASMD Type B is a late-onset, severe disease characterized by progressive hepatosplenomegaly, gradual deterioration of liver and pulmonary function, osteopenia and an atherogenic lipid profile. Olipudase alfa is a recombinant human ASM enzyme replacement therapy indicated for the treatment of non-C-NS manifestations of ASMD.
- 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.