Algorithm for Investigation of Fabry Disease in Cardiomyopathies

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...

Full description

Bibliographic Details
Main Authors: Sandra Marques e Silva, Ândrea V. F. Chaves, Murillo O. Antunes, Natalia R. Roque, Eduarda M. S. Montenegro, Isabelle Malbouisson, Maurício A. de Paula, Edileide B. Correia
Format: Article
Language:English
Published: SciELO 2024-10-01
Series:Journal of Inborn Errors of Metabolism and Screening
Subjects:
Hypertrophic
cardiomyopathy
Fabry
disease
left
ventricular
hypertrophy
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942024000100402&lng=en&tlng=en

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942024000100402&lng=en&tlng=en

Similar Items