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Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A due to mutations in the GLA gene. This leads to an accumulation of globotriaosylceramide (GL-3) in many tissues, which results in progressive damage to the kidneys, heart, and nervous...
Autores principales: | Dutra-Clarke, Marina, Tapia, Daisy, Curtin, Emily, Rünger, Dennis, Lee, Grace K., Lakatos, Anita, Alandy-Dy, Zyza, Freedkin, Linda, Hall, Kathy, Ercelen, Nesrin, Alandy-Dy, Jousef, Knight, Margaret, Pahl, Madeleine, Lombardo, Dawn, Kimonis, Virginia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788237/ https://www.ncbi.nlm.nih.gov/pubmed/33437642 http://dx.doi.org/10.1016/j.ymgmr.2020.100700 |
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