V. Arruda

Publications269
h-index52
Citations12,954
Highly Influential Citations262
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Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response
We have previously shown that a single portal vein infusion of a recombinant adeno-associated viral vector (rAAV) expressing canine Factor IX (F.IX) resulted in long-term expression of therapeutic… Expand
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Safety and efficacy of gene transfer for Leber's congenital amaurosis.
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease, LCA2, is caused by mutations in the retinal pigment… Expand
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Geographic distribution of the 20210 G to A prothrombin variant.
A variant in prothrombin (clotting factor II), a G to A transition at nucleotide position 20210, has recently been shown to be associated with the prothrombin plasma levels and the risk of both… Expand
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X-linked thrombophilia with a mutant factor IX (factor IX Padua).
We report a case of juvenile thrombophilia associated with a substitution of leucine for arginine at position 338 (R338L) in the factor IX gene (factor IX-R338L). The level of the mutant factor IX… Expand
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Hemophilia B Gene Therapy with a High‐Specific‐Activity Factor IX Variant
Background The prevention of bleeding with adequately sustained levels of clotting factor, after a single therapeutic intervention and without the need for further medical intervention, represents an… Expand
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Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer.
We evaluated the safety and efficacy of an optimized adeno-associated virus (AAV; AAV2.RPE65) in animal models of the RPE65 form of Leber congenital amaurosis (LCA). Protein expression was optimized… Expand
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Evidence for gene transfer and expression of factor IX in haemophilia B patients treated with an AAV vector
Pre-clinical studies in mice and haemophilic dogs have shown that introduction of an adeno-associated viral (AAV) vector encoding blood coagulation factor IX (F.IX) into skeletal muscle results in… Expand
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Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil.
To compare the features of sickle-cell anemia in Brazil with those in other locales, we studied the effects of the beta-globin-like gene cluster haplotype and alpha-thalassemia upon the clinical and… Expand
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Prevalence of the prothrombin gene variant (nt20210A) in venous thrombosis and arterial disease.
TLDR
The prothrombin gene variant resulting form a G-->A transition at position 20210 has been described as a common genetic risk factor for venous thrombosis. Expand
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Prevalence of the mutation C677 --> T in the methylene tetrahydrofolate reductase gene among distinct ethnic groups in Brazil.
Vascular disease is a serious public health problem in the industrialized world, and is a frequent cause of death among the adult population of Brazil. Mild hyperhomocysteinemia has been identified… Expand
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