Fabry Disease: An Update Based on Evidence and Experience
Abstract Fabry disease is an X-linked genetic disorder caused by GLA gene variants, resulting in a lysosomal enzyme deficiency of the acid hydrolase α-galactosidase A, with a progressive accumulation of globotriaosylceramide that mainly affects the cardiovascular, renal, and nervous systems. In Sept...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2025-06-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942025000100402&lng=en&tlng=en |
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