Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up

Fabry disease (FD) is a lysosomal storage disorder caused by deficient alpha-galactosidase A activity in the lysosome due to mutations in the GLA gene, resulting in gradual accumulation of globotriaosylceramide and other derivatives in different tissues. Substrate accumulation promotes different pat...

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Detalles Bibliográficos
Autores principales: Carnicer-Cáceres, Clara, Arranz-Amo, Jose Antonio, Cea-Arestin, Cristina, Camprodon-Gomez, Maria, Moreno-Martinez, David, Lucas-Del-Pozo, Sara, Moltó-Abad, Marc, Tigri-Santiña, Ariadna, Agraz-Pamplona, Irene, Rodriguez-Palomares, Jose F, Hernández-Vara, Jorge, Armengol-Bellapart, Mar, del-Toro-Riera, Mireia, Pintos-Morell, Guillem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068937/
https://www.ncbi.nlm.nih.gov/pubmed/33924567
http://dx.doi.org/10.3390/jcm10081664

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068937/
https://www.ncbi.nlm.nih.gov/pubmed/33924567
http://dx.doi.org/10.3390/jcm10081664

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