Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies

T Averbuch, JA White, NM Fine - Frontiers in Cardiovascular Medicine, 2023 - frontiersin.org
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by
deficient activity of the enzyme alpha-galactosidase. While AFD is recognized as a …

Inflammation and exosomes in Fabry disease pathogenesis

B Coelho-Ribeiro, HG Silva, B Sampaio-Marques… - Cells, 2024 - mdpi.com
Fabry Disease (FD) is one of the most prevalent lysosomal storage disorders, resulting from
mutations in the GLA gene located on the X chromosome. This genetic mutation triggers glo …

Drug repositioning for Fabry disease: acetylsalicylic acid potentiates the stabilization of lysosomal alpha-galactosidase by pharmacological chaperones

M Monticelli, L Liguori, M Allocca, A Bosso… - International Journal of …, 2022 - mdpi.com
Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very
large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations …

Disruption of the microbiota-gut-brain axis is a defining characteristic of the α-Gal A (-/0) mouse model of Fabry disease

C Delprete, R Rimondini Giorgini, E Lucarini… - Gut …, 2023 - Taylor & Francis
Fabry disease (FD) is an X-linked metabolic disease caused by a deficiency in α-
galactosidase A (α-Gal A) activity. This causes accumulation of glycosphingolipids …

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

M Monticelli, B Hay Mele, M Allocca, L Liguori… - International Journal of …, 2023 - mdpi.com
Fabry disease is a lysosomal storage disease caused by mutations in the GLA gene that
encodes alpha-galactosidase (AGAL). The disease causes abnormal globotriaosylceramide …

Enzyme replacement therapy for FABRY disease: possible strategies to improve its efficacy

I Iacobucci, B Hay Mele, F Cozzolino… - International Journal of …, 2023 - mdpi.com
Enzyme replacement therapy is the only therapeutic option for Fabry patients with
completely absent AGAL activity. However, the treatment has side effects, is costly, and …

Correlation analysis between serum procalcitonin and infarct volume in young patients with acute cerebral infarction

H Wen, M Lv - Neurological sciences, 2021 - Springer
Objective To detect the serum procalcitonin (PCT) level and determine its relationship with
the infarct volume in young patients with acute cerebral infarction. Methods According to the …

Cardiac magnetic resonance in Fabry disease: morphological, functional, and tissue features

GD Aquaro, C De Gori, L Faggioni, ML Parisella… - Diagnostics, 2022 - mdpi.com
Fabry disease (FD) is an X-linked inheritable storage disease caused by a deficiency of
alpha-galactosidase causing lysosomal overload of sphingolipids. FD cardiomyopathy is …

Outcomes and management of kidney transplant recipients with Fabry disease: a review

B Yu, MG Atta, DC Brennan, S Kant - Journal of Nephrology, 2024 - Springer
Fabry disease is an X-linked inheritable lysosomal storage disease caused by various
mutations of the galactosidase α gene resulting in α-galactosidase deficiency. Chronic …

[HTML][HTML] LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease

HS Yazd, SF Bazargani, CA Vanbeek… - Journal of Mass …, 2021 - Elsevier
Introduction Lipidomics analysis or lipid profiling is a system-based analysis of all lipids in a
sample to provide a comprehensive understanding of lipids within a biological system. In the …