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

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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Bibliographic Details
Main Authors: Clara Carnicer-Cáceres, Jose Antonio Arranz-Amo, Cristina Cea-Arestin, Maria Camprodon-Gomez, David Moreno-Martinez, Sara Lucas-Del-Pozo, Marc Moltó-Abad, Ariadna Tigri-Santiña, Irene Agraz-Pamplona, Jose F Rodriguez-Palomares, Jorge Hernández-Vara, Mar Armengol-Bellapart, Mireia del-Toro-Riera, Guillem Pintos-Morell
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Journal of Clinical Medicine
Subjects:
fabry disease
classic phenotype
late-onset phenotype
biomarkers
cardiomyopathy
chronic kidney disease
Online Access:https://www.mdpi.com/2077-0383/10/8/1664

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https://www.mdpi.com/2077-0383/10/8/1664

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