Search Results - "Ferrer, Henrique"

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients by Varela, Patrícia, Mastroianni Kirsztajn, Gianna, Motta, Fabiana L, Martin, Renan P, Turaça, Lauro T, Ferrer, Henrique L F, Gomes, Caio P, Nicolicht, Priscila, Mara Marins, Maryana, Pessoa, Juliana G, Braga, Marion C, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João B

“…Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene…”
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Current Scenario and Future Perspectives of Porcine Corneal Xenotransplantation by Nascimento, Heloisa, Martins, Thaís M M, Moreira, Rodrigo, Barbieri, Gabriel, Pires, Pedro, Carvalho, Lucimeire N, Rosa, Larissa R, Almeida, Augusto, Araujo, Michelle Silva, Pessuti, Carmen Luz, Ferrer, Henrique, Pereira Gomes, José Álvaro, Belfort, Jr, Rubens, Raia, Silvano

“…Corneal diseases represent a significant cause of blindness worldwide, with corneal transplantation being an effective treatment to prevent vision loss…”
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Identification of a novel GLA mutation in a family with classical phenotype of Fabry disease by Ferrer, Henrique Lage Ferreira, Pesquero, João Bosco, Varela, Patrícia, Aranda, Carolina, Martins, Ana Maria

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Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family by Varela, Patrícia, Mastroianni Kirsztajn, Gianna, Ferrer, Henrique, Aranda, Carolina, Wallbach, Krissia, Ferreira da Mata, Gustavo, Moura, Luiz A, Moreira, Sílvia R, Mendes, Carmen, Curiati, Marco A, Martins, Ana Maria, Bosco Pesquero, João

“…Fabry disease (FD) is a rare X-linked storage disorder resulting from the deficient activity of the lysosomal hydrolase α-galactosidase A (α-Gal A). Here we…”
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