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Progress and Challenges in the Treatment of Fabry Disease.
Lenders M, Menke ER, Brand E. Lenders M, et al. BioDrugs. 2025 Jul;39(4):517-535. doi: 10.1007/s40259-025-00723-3. Epub 2025 May 1. BioDrugs. 2025. PMID: 40310476 Free PMC article. Review.
The method of choice for confirming the diagnosis is the determination of reduced alpha-galactosidase A activity in leukocytes in male individuals and the molecular genetic detection of a disease-causing mutation in female individuals. Current approved treatment inc …
The method of choice for confirming the diagnosis is the determination of reduced alpha-galactosidase A activity in leukocytes …
Fabry disease cardiomyopathy: A state-of-the-art review.
Pande S, Varzideh F, Gambardella J, Jankauskas SS, Cerasuolo FA, Spinelli L, Kansakar U, De Luca A, Kurland IJ, Sidoli S, Iaccarino G, Sadoshima J, Santulli G. Pande S, et al. Prog Cardiovasc Dis. 2025 Sep-Oct;92:43-65. doi: 10.1016/j.pcad.2025.08.003. Epub 2025 Aug 19. Prog Cardiovasc Dis. 2025. PMID: 40840785 Free article.
Fabry disease or Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A (GLA), leading to systemic accumulation of globotriaosyl-ceramide (Gb3). ...
Fabry disease or Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase …
The Fabry Nephropathy in Patients with N215S Variant.
Mignani R, Berti GM, Vischini G, Di Costanzo R, Ciurli F, Fabbrizio B, Pasquinelli G, La Manna G, Capelli I. Mignani R, et al. Nephron. 2025;149(10):604-608. doi: 10.1159/000545611. Epub 2025 Apr 4. Nephron. 2025. PMID: 40188808 Review.
It is caused by pathogenic variants in the gene that encodes the enzyme alpha-galactosidase A, GLA. The classic form of the disease begins in childhood, presenting with a range of signs and symptoms that can lead to severe complications such as stroke, as well as ca …
It is caused by pathogenic variants in the gene that encodes the enzyme alpha-galactosidase A, GLA. The classic form of the di …
Maturation of Lysosomal alpha-Galactosidase A and Implications for Fabry Disease.
Aral E, Garman SC. Aral E, et al. Nephron. 2025;149(10):572-579. doi: 10.1159/000546916. Epub 2025 Jun 17. Nephron. 2025. PMID: 40527302 Review.
Although Fabry disease results from reduced alpha-galactosidase A activity in the lysosome, there are many different molecular mechanisms for the loss of alpha-galactosidase A activity in Fabry disease patients, so it is of utmost importance to underst …
Although Fabry disease results from reduced alpha-galactosidase A activity in the lysosome, there are many different molecular …
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M, Rudolph E, Brand E. Lenders M, et al. EBioMedicine. 2025 May;115:105733. doi: 10.1016/j.ebiom.2025.105733. Epub 2025 Apr 28. EBioMedicine. 2025. PMID: 40300326 Free PMC article. Review.
Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the alpha-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity. The resulting lysosomal accumulation of the substrate globotriaosylceramide …
Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the alpha-galactosidase …
Bioinformatics-Driven Multi-Factorial Insight into alpha-Galactosidase Mutations.
Hay Mele B, Rossetti F, Andreotti G, Cubellis MV, Guerriero S, Monticelli M. Hay Mele B, et al. Int J Mol Sci. 2025 Jun 17;26(12):5802. doi: 10.3390/ijms26125802. Int J Mol Sci. 2025. PMID: 40565264 Free PMC article.
Fabry disease is a rare genetic disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A (AGAL), resulting in the accumulation of globotriaosylceramides (Gb3) in tissues and organs. ...
Fabry disease is a rare genetic disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A (AGAL), re …
Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.
Biddeci G, Spinelli G, Colomba P, Duro G, Giacalone I, Di Blasi F. Biddeci G, et al. Int J Mol Sci. 2025 Jul 22;26(15):7054. doi: 10.3390/ijms26157054. Int J Mol Sci. 2025. PMID: 40806187 Free PMC article. Review.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in a deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A). This deficiency leads to the progressive accumulation of globotriaosylceramide …
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in a deficient activity of t …
Fabry Disease and Its Different Phenotypes.
Antunes MO, Nastari RR, Arteaga-Fernandez E, Lizandro MGH, El-Feghaly WB, Ferreira GJDS, Martins AS, Leguizamon JAGO, Correia VM, Madrini Junior V, Fernandes F. Antunes MO, et al. Arq Bras Cardiol. 2025 Mar;122(2):e20240535. doi: 10.36660/abc.20240535. Arq Bras Cardiol. 2025. PMID: 40136155 Free PMC article. English, Portuguese.
Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene causing enzyme alpha-galactosidase A deficiency and accumulation of globotriaosylceramide (Gb3) in tissues such as the heart, kidneys, and the nervous system. ...Fabry disease (FD …
Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene causing enzyme alpha-galactosidase A de …
Lysosomal Storage-Independent Fabry Disease Variants with alpha-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response.
Živná M, Živná M, Lenders M, Kmoch S. Živná M, et al. Nephron. 2025;149(10):580-590. doi: 10.1159/000545388. Epub 2025 Mar 20. Nephron. 2025. PMID: 40112790 Free PMC article. Review.

Background: Clinical findings in Fabry disease have classically been attributed to loss-of-function variants in the GLA gene that result in alpha-galactosidase A deficiency, intracellular accumulation of globotriaosylceramides and clinical manifestations. . …

Background: Clinical findings in Fabry disease have classically been attributed to loss-of-function variants in the GLA gene that r …

Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.
Klein A, Klug K, Breyer M, Grüner J, Medala VK, Nordbeck P, Wanner C, Klopocki E, Üçeyler N. Klein A, et al. J Inherit Metab Dis. 2024 Jul;47(4):805-817. doi: 10.1002/jimd.12743. Epub 2024 Apr 15. J Inherit Metab Dis. 2024. PMID: 38618884
Fabry disease (FD) is an X-linked multiorgan disorder caused by variants in the alpha-galactosidase A gene (GLA). Depending on the variant, disease phenotypes range from benign to life-threatening. ...We have analyzed four different male subject-derived cell types f …
Fabry disease (FD) is an X-linked multiorgan disorder caused by variants in the alpha-galactosidase A gene (GLA). Depending on …
60 results