Now showing items 1-6 of 6

    • Alterações Funcionais Renais Em Pacientes Com Deficiência De Alfa-Galactosidase A 

      Moreira, Silvia Regina Da Silva [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2017-08-31)
      Introduction: Fabry disease is caused by the deficiency of alpha-galactosidase A and affects different systems of human organism, presenting high morbidity and early mortality, particularly due to the involvement of renal, ...

    • Análise De Biomarcadores Renais Em Pacientes Com Doença De Fabry 

      Braga, Marion Coting [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2018-02-26)
      Introduction: It Is Recommended That Patients With Fabry Disease Undergo Periodic Renal Monitoring With The Aim Of Avoiding Renal Failure, One Of The Main Causes Of Death In These Patients. Objective: To Evaluate Unused ...

    • Análise Do Ritmo De Atividade E Repouso E Do Perfil De Melatonina Em Pacientes Com Doença De Fabry 

      Vallim, Julia Ribeiro Da Silva [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2018-03-29)
      Introduction: Fabry’s disease is caused by a mutation in GLA gene, whose consequence is the accumulation of glycosphingolipids within the lysosomes. The classic symptomatology of the disease develops in the first decades ...

    • Contribuição Do Exame De Imagem Para A Avaliação De Pacientes Com Deficiência De Alfa-Galactosidase A 

      Neves, Rodrigo Fernandes De Carvalho Azambuja [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2018-06-28)
      Introduction: Alpha-Galactosidase A ("-Gala) Deficiency Is More Commonly Referred To As Fabry's Disease. It Is A Rare, Recessive, X-Linked Disease Caused By Mutations In The Gene Encoding The Lysosomal"-Gala Enzyme, Which ...

    • Mutações D313Y e R118C investigação da patogenicidade 

      Goh, Cibele Keiko [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2020-12-18)
      Fabry disease (FD) is an innate error in the metabolism of glycosphingolipids that causes the absence or deficiency of the enzyme α-galactosidase A (α-Gal A). This disease results in the accumulation of the glycosphingolipid ...

    • Variantes no gene GLA e o perfil enzimático da alfagalactosidase a em pacientes com suspeita de Doença de Fabry 

      Teixeira, Patricia Varela Lima [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2019-03-28)
      Objective: To analyze a database with molecular and biochemical results of patients with suspected Fabry disease. From these results, to evaluate the pathogenicity of the variants, as well as to carry out the in vitro ...