Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation

BACKGROUND: Fabry disease (FD) is caused by a defect in α‐galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly globotriaosylceramide and its metabolites in several organs. Pulmonary manifestations of FD mimic chronic obstructive pulmonary disease and a...

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Detalles Bibliográficos
Autores principales: Pietilä‐Effati, Päivi, Söderström, Johan, Saarinen, Jukka T., Löyttyniemi, Eliisa, Kantola, Ilkka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034682/
https://www.ncbi.nlm.nih.gov/pubmed/35246967
http://dx.doi.org/10.1002/mgg3.1915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034682/
https://www.ncbi.nlm.nih.gov/pubmed/35246967
http://dx.doi.org/10.1002/mgg3.1915

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