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 ...

    • Estudo Da Homeostase Lisossômica E Caracterização De Fibroblastos De Pacientes Com Doença De Fabry Em Cultura Celular 

      Gomez, Nadia Aylin [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 2017-01-31)
      Fabry disease is one of the lysosomal storage diseases which has a X-linked recessive inheritance. A mutation in GLA gene, causes α-galactosidase A (α-Gal A) deficiency, that with the crescent accumulation of globotriaosylceramide ...

    • Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients 

      Müller, Karen Barbosa [UNIFESP]; Galdieri, Luciano C. [UNIFESP]; Pereira, Vanessa Gonçalves [UNIFESP]; Martins, Ana Maria [UNIFESP]; D'Almeida, Vânia [UNIFESP] (Sociedade Brasileira de Genética, 2012-01-01)
      Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for vascular diseases, ...

    • 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 ...