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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Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Sociedade Brasileira de Cardiologia (SBC)
Цуврал:	Arquivos Brasileiros de Cardiologia
Нөхцлүүд:	Fabry Disease/genetic Cardiomyopathy, Hypertrophic Hypertrophy, Left Ventricular Glycosphingolipids
Онлайн хандалт:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2019000700077&lng=en&tlng=en
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