GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

Abstract Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphing...

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Main Authors: Ândrea Virgínia Chaves-Markman, Manuel Markman, Eveline Barros Calado, Ricardo Flores Pires, Marcelo Antônio Oliveira Santos-Veloso, Catarina Maria Fonseca Pereira, Andréa Bezerra de Melo da Silveira Lordsleem, Sandro Gonçalves de Lima, Brivaldo Markman Filho, Dinaldo Cavalcanti de Oliveira
Format: Article
Language:English
Published: Sociedade Brasileira de Cardiologia (SBC)
Series:Arquivos Brasileiros de Cardiologia
Subjects:
Fabry Disease/genetic
Cardiomyopathy, Hypertrophic
Hypertrophy, Left Ventricular
Glycosphingolipids
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2019000700077&lng=en&tlng=en

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