Now showing items 1-7 of 7

    • ACE activity is modulated by the enzyme alpha-galactosidase A 

      Batista, Elice Carneiro; Carvalho, Luiz Roberto; Casarini, Dulce Elena [UNIFESP]; Carmona, Adriana Karaoglanovic; Santos, Edson Lucas dos; Silva, Elton Dias da; Santos, Robson Augusto dos; Nakaie, Clovis Ryuichi; Munoz Rojas, Maria Veronica; Oliveira, Suzana Macedo de; Bader, Michael; D'Almeida, Vania [UNIFESP]; Martins, Ana Maria [UNIFESP]; Souza, Kely de Picoly; Pesquero, Joao Bosco [UNIFESP] (Springer, 2011-01-01)
      Fabry disease is a multisystem X-linked disorder resulting from alpha-galactosidase A (alpha-GalA) gene mutations leading to the accumulation of globotriaosylceramide mainly in endothelium compromising heart, kidney, and ...

    • Demographic characterization of Brazilian patients enrolled in the Fabry Registry 

      Martins, Ana Maria [UNIFESP]; Kyosen, Sandra Obikawa [UNIFESP]; Garrote, J. [UNIFESP]; Marques, Fabricio Machado V.; Guilhem, J. G.; Macedo, Eliane; Sobral Neto, José; Ura, Somei (Funpec-editora, 2013-01-01)
      Fabry disease (FD) is an X-linked inborn error of metabolism caused by alpha-galactosidase A deficiency. the Fabry Registry is an ongoing observational database that compiles clinical data on patients with FD. We analyzed ...

    • Fabry disease - importance of screening in cornea verticillata: case report 

      Yonamine, Fabio Yamasato [UNIFESP]; Arantes, Tiago Eugênio Faria e [UNIFESP]; Muccioli, Cristina [UNIFESP] (Conselho Brasileiro de Oftalmologia, 2011-12-01)
      Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea ...

    • Fabry disease: clinical and genotypic aspects of three cases in first degree relatives 

      Silva, Leticia Bueno Nunes Da; Badiz, Thais Cardoso De Mello Tucunduva; Enokihara, Milvia Maria Simoes E Silva; Porro, Adriana Maria [UNIFESP] (Sociedade Brasileira de Dermatologia, 2014-01-01)
      Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce ...

    • Higher frequency of paraoxonase gene polymorphism and cardiovascular impairment among Brazilian Fabry Disease patients 

      Barris-Oliveira, A. C. [UNIFESP]; Mueller, K. B. [UNIFESP]; Turaca, L. T. [UNIFESP]; Pesquero, J. B. [UNIFESP]; Martins, A. M. [UNIFESP]; D'Almeida, V. [UNIFESP] (Elsevier B.V., 2012-11-01)
      Objectives: Paraoxonase (PON1) plays a role in preventing the oxidation of lipoproteins and protecting against atherosclerosis. Several polymorphisms have been described in the gene encoding this enzyme, which are related ...

    • Perfil proteômico de podócitos editados geneticamente pela tecnologia CRISPR/Cas9 expressando características fenotípicas da doença de Fabry 

      Monte Neto, Jose Tiburcio [UNIFESP] (Universidade Federal de São Paulo, 2022-09-01)
      Introdução: Lesão dos podócitos e subsequente nefropatia crônica progressiva são características proeminentes da Doença de Fabry (DF), desordem de depósito lisossômico com padrão de herança ligada ao X provocada por ...

    • Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry 

      Hopkin, Robert J.; Cabrera, Gustavo; Charrow, Joel; Lemay, Roberta; Martins, Ana Maria [UNIFESP]; Mauer, Michael; Ortiz, Alberto; Patel, Manesh R.; Sims, Katherine; Waldek, Stephen; Warnock, David G.; Wilcox, William R. (Academic Press Inc Elsevier Science, 2016)
      Background: Fabry disease, an X-linked lysosomal storage disorder, causes intracellular accumulation of glycosphingolipids leading to progressive renal, cardiovascular, and cerebrovascular disease, and premature death. ...