Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction

Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction

Fabry disease (FD) is an X-linked lysosomal storage disease caused by mutations in GLA, which encodes α-galactosidase A (GLA). The loss or reduced activity of GLA leads to damage to multiple organs, resulting in the intracellular accumulation of globotriaosylceramide in various organs, including the...

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Main Authors: Natsuko Inagaki, Yasuyoshi Takei, Tsuguhisa Hatano, Yasuyuki Takada, Yoshinao Yazaki, Hisanori Kosuge, Masatake Kobayashi, Shinji Suzuki, Tomohiro Umezu, Masahiko Kuroda, Kazuhiro Satomi, Takeharu Hayashi
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
Hypertrophic cardiomyopathy
Mid-ventricular obstruction
Female
Prognosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000114
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