J Inherit Metab Dis. 2026 Mar;49(2):e70168. doi: 10.1002/jimd.70168.ABSTRACTFabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A (α-Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotri
Cureus. 2026 Feb 4;18(2):e102948. doi: 10.7759/cureus.102948. eCollection 2026 Feb.ABSTRACTBackground and objectives Pre-participation cardiovascular screening in athletes relies primarily on electrocardiography and transthoracic echocardiography. While cardiac magnetic resonance (CMR) is increasing
Ann Clin Microbiol Antimicrob. 2026 Mar 8. doi: 10.1186/s12941-026-00854-7. Online ahead of print.ABSTRACTBACKGROUND: Paediatric tuberculosis (TB) diagnosis remains a challenge due to the paucibacillary nature of the disease, resulting in 51.00% of TB cases remaining undiagnosed, rising to 58% in ch
Rev Cardiovasc Med. 2026 Feb 26;27(2):46829. doi: 10.31083/RCM46829. eCollection 2026 Feb.ABSTRACTCoronary microvascular dysfunction (CMD) is a key driver of ischemia and prognosis across several non-ischemic cardiomyopathies. This review summarizes the main tools for diagnosing microvascular dysfun
NPJ Cardiovasc Health. 2025 Aug 1;2(1):40. doi: 10.1038/s44325-025-00058-6.ABSTRACTFabry disease (FD, OMIM #301500) is a lysosomal disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a functional deficiency in the enzyme α-galactosidase A. Fabry cardiomyopathy
J Int Med Res. 2026 Feb;54(2):3000605261424042. doi: 10.1177/03000605261424042. Epub 2026 Feb 28.ABSTRACTFabry disease is a rare X-linked lysosomal storage disorder caused by a defect in glycosphingolipid metabolism, which leads to the accumulation of globotriaosylceramide (Gb3) in various cell type
Medicine (Baltimore). 2026 Feb 27;105(9):e47912. doi: 10.1097/MD.0000000000047912.ABSTRACTRATIONALE: Immunoglobulin A nephropathy (IgAN) and membranous nephropathy (MN) are common primary glomerular diseases. Although these conditions are well-characterized, their co-occurrence with Fabry-like zebra
Biomedicines. 2026 Feb 2;14(2):343. doi: 10.3390/biomedicines14020343.ABSTRACTFabry disease (FD) is an X-linked systemic lysosomal storage disease caused by mutations in the galactosidase-α (GLA) gene, which encodes the α-galactosidase A (α-AGAL) enzyme. FD can lead to serious complications, includi
Antioxidants (Basel). 2026 Jan 26;15(2):168. doi: 10.3390/antiox15020168.ABSTRACTFabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency, accumulation of globotriaosylceramide (Gb3), and progressive multiorgan involvement.
Intractable Rare Dis Res. 2026 Feb 28;15(1):106-114. doi: 10.5582/irdr.2025.01070.ABSTRACTFabry disease (FD) is a rare multisystemic lysosomal storage disorder with diverse pediatric manifestations. This multicenter study analyzed 64 children with FD from the Chinese Children Genetic Kidney Disease
Int J Cardiol Heart Vasc. 2026 Jan 18;62:101869. doi: 10.1016/j.ijcha.2026.101869. eCollection 2026 Feb.ABSTRACTAIMS: To evaluate the utility of cardiovascular magnetic resonance imaging (CMR) in distinguishing Anderson-Fabry disease (AFD) harboring the c.640-801G > A mutation from hypertrophic card
Nefrologia (Engl Ed). 2026 Feb 19:501444. doi: 10.1016/j.nefroe.2026.501444. Online ahead of print.ABSTRACTLecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disorder resulting from mutations in the LCAT gene, which leads to abnormal lipoprotein metabolism. This res
Int J Cardiol Heart Vasc. 2026 Feb 9;63:101852. doi: 10.1016/j.ijcha.2025.101852. eCollection 2026 Apr.ABSTRACTPURPOSE: Fabry disease (FD) is characterized by hypertrophic cardiomyopathy and early diagnosis is essential, considering the response to enzyme replacement or chaperone therapies. Recently
Med Genet. 2026 Feb 18;38(1):39-50. doi: 10.1515/medgen-2025-2044. eCollection 2026 Feb.ABSTRACTGenetic metabolic kidney diseases arise from (likely) pathogenic variants affecting kidney metabolism, causing progressive kidney dysfunction. Symptoms include but are not restricted to nephrolithiasis, p
Front Cardiovasc Med. 2026 Feb 3;13:1727546. doi: 10.3389/fcvm.2026.1727546. eCollection 2026.ABSTRACTFabry disease (FD) is a rare X-linked lysosomal storage disorder characterized by heterogeneous clinical manifestations. Cardiac involvement arises from progressive glycosphingolipid accumulation wi
JACC Case Rep. 2026 Feb 18;31(7):106558. doi: 10.1016/j.jaccas.2025.106558.ABSTRACTBACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a mutation in the GLA gene. The classic phenotype primarily affects male children with progressive multiorgan complications, while the
J Cachexia Sarcopenia Muscle. 2026 Feb;17(1):e70233. doi: 10.1002/jcsm.70233.ABSTRACTBACKGROUND: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This mu
Kidney Int Rep. 2025 Dec 23;11(3):103742. doi: 10.1016/j.ekir.2025.103742. eCollection 2026 Mar.ABSTRACTINTRODUCTION: Sodium-glucose cotransporter 2 (SGLT2) inhibitors have been demonstrated to reduce proteinuria and disease progression in people with chronic kidney disease (CKD), but data in Fabry
Public Health Genomics. 2026 Feb 17:1-19. doi: 10.1159/000551086. Online ahead of print.ABSTRACTINTRODUCTION: Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A (aGAL) deficiency. Newborn screening (NBS) programs for FD have been implemented in several U.S. s
No abstractAnn Indian Acad Neurol. 2026 Jan 1;29(1):132-135. doi: 10.4103/aian.aian_954_25. Epub 2026 Feb 17.NO ABSTRACTPMID:41700604 | PMC:PMC12962412 | DOI:10.4103/aian.aian_954_25
Front Med (Lausanne). 2026 Jan 30;13:1700541. doi: 10.3389/fmed.2026.1700541. eCollection 2026.ABSTRACTA 7-year-old boy was admitted to the hospital for abdominal pain, vomiting, and edema. Examinations revealed microvascular hemolytic anemia, thrombocytopenia, acute kidney injury, and hypocomplemen
No abstractBMC Infect Dis. 2026 Feb 14. doi: 10.1186/s12879-026-12864-z. Online ahead of print.NO ABSTRACTPMID:41691183 | DOI:10.1186/s12879-026-12864-z
Orphanet J Rare Dis. 2026 Feb 14;21(1):71. doi: 10.1186/s13023-026-04230-8.ABSTRACTBACKGROUND: The COVID-19 pandemic presented unique challenges for patients with inherited metabolic diseases (IMDs), particularly due to the risk of infection-related metabolic decompensation and disruptions to specia
J Med Internet Res. 2026 Feb 2. doi: 10.2196/73612. Online ahead of print.ABSTRACTBACKGROUND: Rare diseases (RDs) affect over 300 million people globally, and only about 5% have approved therapies. Lysosomal storage disorders (LSDs) exemplify the diagnostic and long-term care complexity typical of R
