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New mutations in the GLA gene in Brazilian families with Fabry disease
(NATURE PUBLISHING GROUPNEW YORK, 2012-06)
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the ...
Caracterização funcional de variantes presentes no gene GLA de pacientes com suspeita de Doença de Fabry
(Universidade Federal de São Paulo, 2023-01-27)
A Doença de Fabry é uma patologia rara causada por variantes presentes no gene GLA, localizado no braço longo do cromossomo X. Variantes patogênicas nesse gene levam a uma atividade nula ou reduzida em diferentes níveis ...
Variantes no gene GLA e o perfil enzimático da alfagalactosidase a em pacientes com suspeita de Doença de Fabry
(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 ...
Human α-galactosidase a mutants: Priceless tools to develop novel therapies for fabry disease
(MDPI AG, 2021-06)
Fabry disease (FD) is a lysosomal storage disease caused by mutations in the gene for the α-galactosidase A (GLA) enzyme. The absence of the enzyme or its activity results in the accumulation of glycosphingolipids, mainly ...