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Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma Genet. Mol. Biol.
Sperb-Ludwig,Fernanda; Alegra,Taciane; Velho,Renata Voltolini; Ludwig,Nataniel; Siebert,Marina; Jobim,Mariana; Vairo,Filippo; Schwartz,Ida V. D..
Abstract Mucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data indicate that MLII patients have functionally impaired immune system that contributes to predisposition to infections.We evaluated the immunological phenotype of three Brazilian patients with ML III gamma. Our data suggest that the residual activity of GlcNAc-1-phosphotransferase in patients with ML III gamma is enough to allow the targeting of the lysosomal enzymes required for B-cell functions maintenance.
Tipo: Info:eu-repo/semantics/other Palavras-chave: Mucolipidosis III gamma; Inborn error of metabolism; Humoral immune response; B-cell functions.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400571
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Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis Genet. Mol. Biol.
Alegra,Taciane; Vairo,Filippo; de Souza,Monica V.; Krug,Bárbara C.; Schwartz,Ida V.D..
The specific treatment available for Fabry disease (FD) is enzyme replacement therapy (ERT) with agalsidase alfa or beta. A systematic review and meta-analysis was conducted to assess the efficacy and safety of ERT for FD. Only double-blind, randomized clinical trials (RCTs) comparing agalsidase alfa or beta and placebo were included. ERT with either agalsidase alfa or beta was considered similar for the purposes of analysis. Ten RCTs were identified, which showed improvements in neuropathic pain, in heart abnormalities and in globotriaosylceramide (GL-3) levels. A meta-analysis showed increased odds for fever, rigors, development of IgG antibodies to agalsidase, and no significant association with development of hypertension or reduction in the QRS...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Fabry disease; Fabry disease/therapy; Enzyme replacement therapy; Alpha-Galactosidase.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600009
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