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Fabry Disease and the Heart: A Comprehensive Review
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulatio...
Autores principales: | Azevedo, Olga, Cordeiro, Filipa, Gago, Miguel Fernandes, Miltenberger-Miltenyi, Gabriel, Ferreira, Catarina, Sousa, Nuno, Cunha, Damião |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123068/ https://www.ncbi.nlm.nih.gov/pubmed/33922740 http://dx.doi.org/10.3390/ijms22094434 |
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