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...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788237/
https://ncbi.nlm.nih.gov/pubmed/33437642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100700
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