Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease

BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A gene (GLA) leading to deficiency of α-galactosidase A and ultimately in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3) and its deacylated deriv...

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Detalles Bibliográficos
Autores principales: Nowak, Albina, Beuschlein, Felix, Sivasubramaniam, Visnuka, Kasper, David, Warnock, David G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867289/
https://www.ncbi.nlm.nih.gov/pubmed/33495303
http://dx.doi.org/10.1136/jmedgenet-2020-107338

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867289/
https://www.ncbi.nlm.nih.gov/pubmed/33495303
http://dx.doi.org/10.1136/jmedgenet-2020-107338

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