Neurobiol Dis. 2026 Sep 4:107595. doi: 10.1016/j.nbd.2026.107595. Online ahead of print.ABSTRACTFabry disease (FD) is a genetic disorder caused by a deficiency of alpha-galactosidase A. Neuropathic pain is a hallmark of FD, beginning in early childhood and persisting throughout life. Current therapi
Front Mol Biosci. 2026 Aug 20;13:1828669. doi: 10.3389/fmolb.2026.1828669. eCollection 2026.ABSTRACTBACKGROUND: Fabry disease (Anderson-Fabry disease,FD) is an X-linked lysosomal storage disorder caused by variants in GLA, resulting in α-galactosidase A (α-Gal A) deficiency and accumulation of globo
Exp Mol Med. 2026 Sep 3. doi: 10.1038/s12276-026-01821-0. Online ahead of print.ABSTRACTHuman renal proximal tubular epithelial cells (RPPTCs) are crucial for exploring the molecular and cellular mechanisms underlying the pathophysiology of kidney injuries. In this study, we generated the functional
Intractable Rare Dis Res. 2026 Aug 31;15(3):254-259. doi: 10.5582/irdr.2026.01023.ABSTRACTFabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the α-galactosidase A (α-Gal A, GLA) gene. The disease exhibits substantial clinical heterogeneity, with renal injury rep
Int J Mol Sci. 2026 Aug 20;27(16):7447. doi: 10.3390/ijms27167447.ABSTRACTThe GLA IVS4+919G>A founder variant causes a late-onset, cardiac-predominant form of Fabry disease, yet the severity of cardiac remodeling varies markedly among affected men. We studied 167 unrelated male carriers. Genome-wide
Biomolecules. 2026 Aug 17;16(8):1196. doi: 10.3390/biom16081196.ABSTRACTRight ventricular global longitudinal strain (RVGLS) and right ventricular free-wall longitudinal strain (RVFWLS) are both used to assess right ventricular involvement, but they include different myocardial components. We examin
Stem Cell Res. 2026 Sep;95:104088. doi: 10.1016/j.scr.2026.104088. Epub 2026 Aug 22.ABSTRACTFabry disease is a rare genetic disease caused by loss-of-function in the GLA gene. This gene encodes the lysosomal enzyme α-galactosidase A (α-Gal A). A deficiency of α-Gal A results in the globotriaosylcera
Front Cardiovasc Med. 2026 Aug 11;13:1901732. doi: 10.3389/fcvm.2026.1901732. eCollection 2026.ABSTRACTBACKGROUND: Fabry disease is a cardiomyopathy with multisystemic manifestations that is easily to be misdiagnosed as another type of cardiomyopathy. Fabry cardiomyopathy may present with left ventr
Stem Cell Res. 2026 Sep;95:104084. doi: 10.1016/j.scr.2026.104084. Epub 2026 Aug 17.ABSTRACTFabry disease (FD) is a monogenic, X-linked lysosomal storage disorder originating from mutations in the GLA gene, which encodes alpha-galactosidase A. Impaired enzyme activity leads to accumulation of the su
J Inherit Metab Dis. 2026 Sep;49(5):e70235. doi: 10.1002/jimd.70235.ABSTRACTMale patients with the classical phenotype of Fabry disease (FD) are at risk of developing inhibiting antidrug antibodies (iADAs) against recombinant α-galactosidase-A, administered in the form of enzyme replacement therapy
Clin Case Rep. 2026 Aug 18;14(8):e73353. doi: 10.1002/ccr3.73353. eCollection 2026 Aug.ABSTRACTWe described a 12-year-old boy with classic Fabry disease who was diagnosed through newborn screening. At age 6.2, he started agalsidase alfa based on evidence of subclinical organ involvement. At age 7.2,
J Cardiovasc Echogr. 2026 Jun 24;36(3):227-236. doi: 10.4103/jcecho.jcecho_184_25. eCollection 2026 May-Jun.ABSTRACTAtrial strain assessment, both by speckle-tracking echocardiography and feature tracking cardiac magnetic resonance (CMR), represents a useful tool in all the spectrum of cardiomyopath
Cureus. 2026 Jul 19;18(7):e112962. doi: 10.7759/cureus.112962. eCollection 2026 Jul.ABSTRACTFabry disease, also known as Anderson-Fabry disease, is a rare, X-linked lysosomal storage disease caused by mutations in the GLA (galactosidase alpha) gene, which causes a deficiency in the action of the alp
BMJ Glob Health. 2026 Aug 18;11(Suppl 2):e021113. doi: 10.1136/bmjgh-2025-021113.ABSTRACTINTRODUCTION: Surgical care is essential to achieving universal health coverage (UHC) and addressing 30% of the global disease burden, including non-communicable diseases (NCDs), maternal health and injuries. Ho
J Nephrol. 2026 Aug 18:aajag122. doi: 10.1093/joneph/aajag122. Online ahead of print.ABSTRACTBACKGROUND: Fabry disease is a rare X-linked disorder characterized by the accumulation of sphingolipids in various vital systems, leading to multiple organ damage. As previous data showed the association be
Front Genet. 2026 Aug 4;17:1905397. doi: 10.3389/fgene.2026.1905397. eCollection 2026.ABSTRACTFabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, in which the kidney is a principal target organ and Fabry nephropathy is a major determinant of long-term outcom
Am J Case Rep. 2026 Aug 18;27:e952758. doi: 10.12659/AJCR.952758.ABSTRACTBACKGROUND Fabry disease (FD) is a rare X‑linked lysosomal disorder in which long‑term cardiac outcomes, particularly in heterozygous females, remain incompletely defined. The N224S alpha-galactosidase A gene (GLA) variant is r
Ren Fail. 2026 Dec;48(1):2702129. doi: 10.1080/0886022X.2026.2702129. Epub 2026 Aug 13.ABSTRACTFabry disease is an X-linked hereditary lysosomal storage disease caused by variants in the GLA gene. These variants result in reduced or absent α-galactosidase A (α-Gal A) enzyme activity, leading to the
Adv Sci (Weinh). 2026 Aug 13:e77151. doi: 10.1002/advs.77151. Online ahead of print.ABSTRACTThe lysosomal storage disorder Fabry disease results from α-galactosidase A deficiency, leading to excessive glycosphingolipid substrate accumulation, primarily globotriaosylceramide (Gb3). While the underlyi
Int J Mol Sci. 2026 Jul 30;27(15):6850. doi: 10.3390/ijms27156850.ABSTRACTFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to glycosphingolipid accumulation and progressive organ damage. Beyond substrate storage, low-grade inflammation
JACC Asia. 2026 Aug 6:S2772-3747(26)00528-4. doi: 10.1016/j.jacasi.2026.06.028. Online ahead of print.ABSTRACTBACKGROUND: Static anatomical assessments may not fully capture the dynamic progression and varied clinical outcomes in Fabry cardiomyopathy.OBJECTIVES: The authors aimed to evaluate the pro
J Biomed Sci. 2026 Aug 11;33(1):80. doi: 10.1186/s12929-026-01261-y.ABSTRACTBACKGROUND: To enhance the efficiency of identifying rare variants within the Taiwanese population and to support genome-wide association studies (GWAS) and imputation studies for genetic risk prediction in the Han populatio
Biochem Pharmacol. 2026 Nov;253(Pt 2):118323. doi: 10.1016/j.bcp.2026.118323. Epub 2026 Aug 6.ABSTRACTFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and progressive accumulation of globotriaosylceramide (G
No abstractJ Formos Med Assoc. 2026 Aug 5:S0929-6646(26)00776-X. doi: 10.1016/j.jfma.2026.08.006. Online ahead of print.NO ABSTRACTPMID:42557148 | DOI:10.1016/j.jfma.2026.08.006
