Bilateral avascular necrosis: A rare complication of Fabry disease [PDF]
Molecular Genetics and Metabolism ReportsFabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, which encodes for the α–galactosidase A enzyme responsible for degrading globotriaosylceramide.
Candela Romano +3 more
doaj +3 more sources
Fabry disease exacerbates renal interstitial fibrosis after unilateral ureteral obstruction via impaired autophagy and enhanced apoptosis [PDF]
Kidney Research and Clinical Practice, 2021 Background Fabry disease is a rare X-linked genetic lysosomal disorder caused by mutations in the GLA gene encoding alpha-galactosidase A. Despite some data showing that profibrotic and proinflammatory cytokines and oxidative stress could be involved in ...
Sungjin Chung +9 more
doaj +2 more sources
Fabry disease presenting with sudden hearing loss and otosclerosis: a case report [PDF]
Journal of Medical Case Reports, 2012 Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys ...
Felisati Giovanni +5 more
doaj +2 more sources
Lentivirus-mediated gene therapy for Fabry disease
Nature Communications, 2021 Enzyme and chaperone therapies are used to treat Fabry disease. Such treatments are expensive and require intrusive biweekly infusions; they are also not particularly efficacious.
Dwayne L Barber +2 more
exaly +2 more sources
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]
Molecular Genetics & Genomic Medicine, 2018 BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva +15 more
core +2 more sources
Migalastat: A Review in Fabry Disease
Drugs, 2019 Fabry disease is a rare lysosomal disorder characterized by deficient or absent α-galactosidase A activity resulting from mutations in the GLA gene. Migalastat (Galafold™), a pharmacological chaperone, stabilizes and facilitates trafficking of amenable ...
Emma H. McCafferty, L. Scott
exaly +2 more sources
Fabry disease revisited: Management and treatment recommendations for adult patients
Molecular Genetics and Metabolism, 2018 Alberto Ortiz +2 more
exaly +2 more sources
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. [PDF]
, 2015 Trial designThis analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial.MethodsMales
An Haack, Kristina +17 more
core +16 more sources
Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations
Genes, 2023 Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme activity.
Raafiah Izhar +8 more
semanticscholar +1 more source
Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease
Gene Therapy, 2023 Fabry disease is an X-linked lysosomal storage disorder caused by loss of alpha-galactosidase A (α-Gal A) activity and is characterized by progressive accumulation of glycosphingolipids in multiple cells and tissues.
J. Jeyakumar +20 more
semanticscholar +1 more source