Mol Genet Metab Rep. 2026 May 14;47:101318. doi: 10.1016/j.ymgmr.2026.101318. eCollection 2026 Jun.ABSTRACTFabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, wher
Mol Genet Metab Rep. 2026 May 11;47:101316. doi: 10.1016/j.ymgmr.2026.101316. eCollection 2026 Jun.ABSTRACTBACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A (α-Gal) activity, leading to progressive renal, cardiac, and cerebrovascular invol
Am Heart J Plus. 2026 May 9;66:100795. doi: 10.1016/j.ahjo.2026.100795. eCollection 2026 Jun.ABSTRACTCardiac involvement of Fabry disease (FD) includes heart failure (HF) treated according to general guideline recommendations. The retrospective study investigates HF medication in FD focusing on sodi
Int J Pharm X. 2026 May 1;11:100555. doi: 10.1016/j.ijpx.2026.100555. eCollection 2026 Jun.ABSTRACTFabry disease (FD) is a multisystemic rare disorder caused by mutations in the GLA gene encoding α-Galactosidase A (α-Gal A) enzyme. The deficiency of this enzyme leads to progressive lysosomal accumul
Public Health Genomics. 2026 May 21:1-22. doi: 10.1159/000552599. Online ahead of print.ABSTRACTINTRODUCTION: Fabry disease (FD) is a multi-systemic, X-linked lysosomal storage disorder caused by decreased α-galactosidase activity. Early diagnosis enables timely treatment, but enzyme-based newborn s
Open Heart. 2026 May 20;13(1):e004016. doi: 10.1136/openhrt-2026-004016.ABSTRACTBACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene and commonly involves the heart. This study aimed to investigate the pathogenicity of a novel mis
Arq Bras Cardiol. 2026 May 15;123(3):e20250186. doi: 10.36660/abc.20250186. eCollection 2026.ABSTRACTDanon disease (DD) is a rare X-linked disorder caused by pathogenic or likely pathogenic variants in the lysosome-associated membrane protein 2 (LAMP2) gene. It primarily manifests as hypertrophic ca
Genet Med Open. 2026 Jan 30;4:104366. doi: 10.1016/j.gimo.2026.104366. eCollection 2026.ABSTRACTPURPOSE: Fabry disease (FD), an X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A, results in the accumulation of globotriaosylceramide and its deacylated derivative globot
BMC Health Serv Res. 2026 May 12. doi: 10.1186/s12913-026-14677-x. Online ahead of print.ABSTRACTBACKGROUND: Left ventricular hypertrophy (LVH) is a frequent clinical phenotype with diverse etiologies, including hypertensive heart disease, hypertrophic cardiomyopathy, and infiltrative or metabolic d
Front Cardiovasc Med. 2026 Apr 23;13:1769383. doi: 10.3389/fcvm.2026.1769383. eCollection 2026.ABSTRACTBACKGROUND: Sudden cardiac death is a common but poorly understood cause of mortality in Fabry disease (FD). We investigated the arrhythmogenic mechanisms using a new approach methodology model of
No abstractOrphanet J Rare Dis. 2026 May 8;21(1):188. doi: 10.1186/s13023-025-04162-9.NO ABSTRACTPMID:42104509 | PMC:PMC13154553 | DOI:10.1186/s13023-025-04162-9
Mol Genet Metab Rep. 2026 Apr 28;47:101313. doi: 10.1016/j.ymgmr.2026.101313. eCollection 2026 Jun.ABSTRACTBACKGROUND: Fabry disease (FD) is a rare genetic disorder linked to X chromosome, causing progressive multisystem involvement. Epidemiological data on FD are limited, both in Latin America and
BMJ Glob Health. 2026 May 4;11(Suppl 2):e021114. doi: 10.1136/bmjgh-2025-021114.ABSTRACTBACKGROUND: Surgery is an indispensable component of a health system, yet financing its delivery faces significant financing challenges. This study seeks to address the research question: What is the financial co
Front Immunol. 2026 Apr 17;17:1658002. doi: 10.3389/fimmu.2026.1658002. eCollection 2026.ABSTRACTOBJECTIVES: Vestibular and oculomotor abnormalities have been widely identified in Fabry disease (FD), with inflammation potentially playing an important role. We aim to investigate the expression of inf
BMC Nephrol. 2026 May 4. doi: 10.1186/s12882-026-05021-w. Online ahead of print.ABSTRACTBACKGROUND: Hydroxychloroquine (HCQ)-induced renal phospholipidosis typically manifests as glomerular "zebra bodies", "myeloid bodies", and "curvilinear bodies" and is generally considered a benign histological m
No abstractKidney360. 2026 Apr 1;7(4):922-923. doi: 10.34067/KID.0000001025. Epub 2026 Apr 30.NO ABSTRACTPMID:42060483 | PMC:PMC13134781 | DOI:10.34067/KID.0000001025
BMJ Glob Health. 2026 Apr 28;11(Suppl 2):e021112. doi: 10.1136/bmjgh-2025-021112.ABSTRACTINTRODUCTION: Financial limitations have stalled the implementation of national surgical plans in low- and middle-income countries (LMICs), which significantly rely on development assistance for their health exp
J Korean Med Sci. 2026 Apr 27;41(16):e132. doi: 10.3346/jkms.2026.41.e132.ABSTRACTBACKGROUND: Fabry disease (FD) poses multifaceted challenges for patients in Republic of Korea (South Korea), but an in-depth qualitative understanding of their experiences and support needs is still lacking. This stud
Front Public Health. 2026 Apr 9;14:1713591. doi: 10.3389/fpubh.2026.1713591. eCollection 2026.ABSTRACTBACKGROUND: Nontuberculous mycobacteria (NTM) are rare but emerging pathogens in pediatric populations, particularly in countries where BCG vaccination has been discontinued. Their diagnosis is ofte
bioRxiv [Preprint]. 2026 Apr 19:2026.04.15.718770. doi: 10.64898/2026.04.15.718770.ABSTRACTIncreased literature support the pathogenetic role of dysfunctional energetic metabolism in the setup and progression of organ damage and failure. Genetic diseases often offer the possibility to investigate pa
Front Mol Biosci. 2026 Apr 9;13:1702751. doi: 10.3389/fmolb.2026.1702751. eCollection 2026.ABSTRACTBACKGROUND: Enzyme replacement therapy (ERT) for Fabry disease can elicit anti-drug antibodies (ADAs) that may diminish efficacy and limit clinical benefit.OBJECTIVES: To develop and apply a multiplexe
J Inherit Metab Dis. 2026 May;49(3):e70188. doi: 10.1002/jimd.70188.ABSTRACTFabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, which encodes for Alpha Galactosidase-A (α-Gal A). α-Gal A deficiency leads to glycosphingolipid accumulation, like globotriao
No abstractOrphanet J Rare Dis. 2026 Apr 24. doi: 10.1186/s13023-026-04361-y. Online ahead of print.NO ABSTRACTPMID:42032696 | DOI:10.1186/s13023-026-04361-y
Cereb Circ Cogn Behav. 2026 Apr 9;10:100542. doi: 10.1016/j.cccb.2026.100542. eCollection 2026.ABSTRACTCerebral small vessel disease (CSVD) is a major cause of lacunar stroke, vascular cognitive impairment, and gait disturbance, yet the development of disease-modifying therapies is limited by the la
