Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family

Fabry disease (FD) is a rare lysosomal disorder caused by α-galactosidase A deficiency, and it leads to the systemic deposition of globotriasylceramide. Demonstrations of the storage material in biopsies support this diagnosis. We report a histological and ultrastructural study of biopsies that were...

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Detalles Bibliográficos
Autores principales: San Millán-Tejado, Beatriz, Navarro, Carmen, Fernández-Martín, Julián, Rivera, Alberto, Viéitez, Irene, Teijeira, Susana, Ortolano, Saida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488914/
https://www.ncbi.nlm.nih.gov/pubmed/37685755
http://dx.doi.org/10.3390/jcm12175689

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10488914/
https://www.ncbi.nlm.nih.gov/pubmed/37685755
http://dx.doi.org/10.3390/jcm12175689

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