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GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description...

Chaves-Markman,Ândrea Virgínia; Markman,Manuel; Calado,Eveline Barros; Pires,Ricardo Flores; Santos-Veloso,Marcelo Antônio Oliveira

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 globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. Objective: To perform GLA gene screening in a group of patien...

Date: 2019   |   Origin: Oasisbr
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