Algorithm for Investigation of Fabry Disease in Cardiomyopathies
Abstract Fabry disease (FD) is a rare, x-linked lysosomal storage disease caused by mutations in the GLA gene that leads to total or partial alfa galactosidase A deficiency. Its prevalence ranges between 1:117,000 and 1:8,454. Mutations in the GLA gene result in alpha galactosidase A deficiency lead...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2024-10-01
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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=S2326-45942024000100402&lng=en&tlng=en |
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