Anderson-Fabry Disease
Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of...
Main Authors: | Idalina Beirão MD, PhD, Ana Cabrita MD, Márcia Torres MD, Fernando Silva MD, Patricio Aguiar MD, Ana Marta Gomes MD |
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Format: | Article |
Language: | English |
Published: |
SciELO
2016-09-01
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Series: | Journal of Inborn Errors of Metabolism and Screening |
Online Access: | https://doi.org/10.1177/2326409816669372 |
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