bioRxiv [Preprint]. 2026 Jul 13:2026.07.09.737006. doi: 10.64898/2026.07.09.737006.ABSTRACTUrinary incontinence (UI) is a common and debilitating comorbidity in Alzheimer's disease (AD), yet its underlying pathophysiology remains poorly defined. While UI in dementia has traditionally been attributed
Medicina (Kaunas). 2026 Jul 12;62(7):1343. doi: 10.3390/medicina62071343.ABSTRACTBackground and Objectives: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic GLA gene variants, leading to progressive multi-organ damage including end-stage renal disease. Although dialy
Int J Mol Sci. 2026 Jul 22;27(14):6526. doi: 10.3390/ijms27146526.ABSTRACTFabry disease is a rare X-linked lysosomal storage disorder characterized by progressive glycosphingolipid accumulation and multisystem organ involvement. Globotriaosylsphingosine (Lyso-Gb3) has emerged as a promising biomarke
Int J Mol Sci. 2026 Jul 19;27(14):6418. doi: 10.3390/ijms27146418.ABSTRACTCardiac disease is a leading cause of morbidity and early death across several lysosomal storage disorders (LSDs); however, the cardiomyopathies of Fabry, Pompe, and Danon disease are still largely treated as separate, substra
Stem Cell Res. 2026 Jul 20;95:104064. doi: 10.1016/j.scr.2026.104064. Online ahead of print.ABSTRACTFabry disease (FD) is an X-linked, monogenic lysosomal storage disorder, caused by mutations in the GLA gene. GLA encodes the lysosomal hydrolase alpha-galactosidase A and enzyme deficiency leads to a
J Clin Pharmacol. 2026 Jul;66(7):e70247. doi: 10.1002/jcph.70247.ABSTRACTLucerastat is an iminosugar with the potential to provide substrate reduction therapy for the treatment of Fabry disease (FD), an inherited X-linked lysosomal storage disorder. The aims of this study were to develop a populatio
Orphanet J Rare Dis. 2026 Jul 16. doi: 10.1186/s13023-026-04438-8. Online ahead of print.ABSTRACTBACKGROUND: Fabry disease is a lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of globotriaosylceramide (Gb3) and widespread
Stem Cell Res. 2026 Jul 11;95:104058. doi: 10.1016/j.scr.2026.104058. Online ahead of print.ABSTRACTFabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency, resulting in progressive accumulation of globotriaosylceramide and related glycosphingolipi
J Family Med Prim Care. 2026 Apr;15(4):1813-1818. doi: 10.4103/jfmpc.jfmpc_2240_25. Epub 2026 May 23.ABSTRACTFabry disease (FD) is a rare X-linked lysosomal storage disorder characterized by α-galactosidase A deficiency, marked phenotypic heterogeneity, and frequent diagnostic delay. We report a mul
J Clin Med. 2026 Jul 3;15(13):5213. doi: 10.3390/jcm15135213.ABSTRACTChronic kidney disease (CKD) has become a global health issue, affecting up to 14% of the population worldwide. Between 1990 and 2021, the number of patients grew from 351 million to almost 674 million, with projections warning tha
Int J Mol Sci. 2026 Jul 3;27(13):5972. doi: 10.3390/ijms27135972.ABSTRACTEndothelial dysfunction underlies many cardiovascular and metabolic diseases. Lysosomal storage disorders, particularly sphingolipidoses, cause intracellular accumulation of specific sphingolipids due to inherited enzyme defect
Sci Rep. 2026 Jul 14. doi: 10.1038/s41598-026-62249-0. Online ahead of print.ABSTRACTFabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and systemic glycosphingolipid accumulation. Diagnosis remains challe
BMC Cardiovasc Disord. 2026 Jul 11. doi: 10.1186/s12872-026-06279-6. Online ahead of print.ABSTRACTBACKGROUND: Cardiac involvement of the disease is a leading cause of death and disability in Fabry disease characterized by pathological accumulation of globotriaosylceramide (Gb3) and lyso-globotriaos
Kidney Blood Press Res. 2026 Jul 10:1-32. doi: 10.1159/000552715. Online ahead of print.ABSTRACTProgressive nephropathy (Fabry nephropathy) is one of the main features of Fabry disease observed in both the early-onset and later-onset types and in as many as 50% of males and 20% of females, which lar
Orphanet J Rare Dis. 2026 Jul 9. doi: 10.1186/s13023-026-04485-1. Online ahead of print.ABSTRACTBACKGROUND: Fabry disease (FD) is a rare inborn error of metabolism in which absent or deficient activity of α-galactosidase A leads to lysosomal dysfunction and globotriaosylceramide accumulation in diff
No abstractAnn Med. 2026 Dec;58(1):2697571. doi: 10.1080/07853890.2026.2697571. Epub 2026 Jul 9.NO ABSTRACTPMID:42424394 | PMC:PMC13353452 | DOI:10.1080/07853890.2026.2697571
During neuroinflammation, CD11c^(+)CD11b^(+) myeloid cells accumulate at the cribriform plate, a key cerebrospinal fluid and antigen outflow site in mice. At this site, podoplanin-expressing cells, including lymphatic vessels and meningeal layers, expand to create a distinct drainage microenvironmen
Front Med (Lausanne). 2026 Jun 23;13:1867822. doi: 10.3389/fmed.2026.1867822. eCollection 2026.ABSTRACTAnderson-Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of glycosphingolipids,
Orphanet J Rare Dis. 2026 Jul 7;21(1):245. doi: 10.1186/s13023-026-04490-4.ABSTRACTBACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by cellular accumulation of globotriaosylceramide (Gb3).METHODS: We investigated dermal Gb3 load as a potential surrogate marker f
BMC Cardiovasc Disord. 2026 Jul 6. doi: 10.1186/s12872-026-06226-5. Online ahead of print.ABSTRACTBACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to globotriaosylceramide accumulation, endothelial activation, inflammation, and
Front Pediatr. 2026 Jun 17;14:1839303. doi: 10.3389/fped.2026.1839303. eCollection 2026.ABSTRACTBACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by pathogenic GLA gene mutations, leading to deficient α-galactosidase A (α-GalA) activity and systemic accumulation of
Clin Case Rep. 2026 Jul 1;14(7):e73054. doi: 10.1002/ccr3.73054. eCollection 2026 Jul.ABSTRACTFabry disease is a rare X-linked lysosomal storage disorder that can affect multiple organs. Cardiac involvement, one of its significant manifestations, can begin in childhood and is more prevalent in males
medRxiv [Preprint]. 2026 Jun 24:2026.06.22.26356274. doi: 10.64898/2026.06.22.26356274.ABSTRACTBACKGROUND: Lysosomal disorders (LDs) are a heterogeneous group of rare inherited disorders characterized by multi-system involvement and high comorbidity burden, which raises concerns about severe COVID-1
Front Cardiovasc Med. 2026 Jun 18;13:1846913. doi: 10.3389/fcvm.2026.1846913. eCollection 2026.ABSTRACTBACKGROUND: Fabry disease is a rare X-linked hereditary lysosomal storage disorder. Its cardiac manifestations often overlap with those of hypertrophic cardiomyopathy or coronary artery disease, le
