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

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...

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Опубликовано в: :Arq Bras Cardiol
Главные авторы: Chaves-Markman, Ândrea Virgínia, Markman, Manuel, Calado, Eveline Barros, Pires, Ricardo Flores, Santos-Veloso, Marcelo Antônio Oliveira, Pereira, Catarina Maria Fonseca, Lordsleem, Andréa Bezerra de Melo da Silveira, de Lima, Sandro Gonçalves, Markman Filho, Brivaldo, de Oliveira, Dinaldo Cavalcanti
Формат: Artigo
Язык:Inglês
Опубликовано: Sociedade Brasileira de Cardiologia - SBC 2019
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Original Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6684188/
https://ncbi.nlm.nih.gov/pubmed/31291414
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5935/abc.20190112
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