Search Results - "Chaves, Rigoberto Gadelha"

Engineering synthetic and recombinant human lysosomal β-glucocerebrosidase for enzyme replacement therapy for Gaucher disease by Figueiredo, Lílian L. Souza, Junior, Wilson Lau, da Silva Goncalves, Victor Wendel, Ramos, Ester Silveira, D’Almeida, Vania, de Souza, Lucas Eduardo Botelho, Orellana, Maristela Delgado, Abraham, Kuruvilla Joseph, Lichtenstein, Flávio, Bleicher, Lucas, Azevedo, Vasco, Chaves, Rigoberto Gadelha, Bonfá, Giuliano, Siciliano, Velia, Weiss, Ron, Gerson, Stanton, Fontes, Aparecida Maria

“…Gaucher Disease (GD) is an autosomal recessive, lysosomal storage disease caused by pathogenic variants in the glucocerebrosidase gene, leading to the loss of…”
Get full text

Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil by Chaves, R.G., Pereira, L. da Veiga, de Araújo, F.T., Rozenberg, R., Carvalho, M.D.F., Coelho, J.C., Michelin-Tirelli, K., Chaves, M. de Freitas, Cavalcanti Jr, G.B.

“…Gaucher's disease (GD) is caused by a β‐glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in the reticuloendothelial system. The…”
Get full text

Successful Screening for Gaucher Disease in a High-Prevalence Population in Tabuleiro do Norte (Northeastern Brazil): A Cross-Sectional Study by Chaves, Rigoberto Gadelha, Coelho, Janice Carneiro, Michelin-Tirelli, Kristiane, Maurício, Tibelle Freitas, de Freitas Maia Chaves, Edineide, de Almeida, Paulo César, Maurício, Carlos Rômulo Filgueira, Cavalcanti, Geraldo Barroso

“…Background: Gaucher disease (GD) is a hereditary lysosomal storage disorder characterized by the accumulation of glucosylceramide, mainly in the cells of the…”
Get full text