Results 41 to 50 of about 9,399,207 (308)
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers
Journal of the American Heart Association, EarlyView., 2021 Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes +14 more
wiley +1 more source
Developments in the treatment of Fabry disease
Journal of Inherited Metabolic Disease, 2020 Enzyme replacement therapy (ERT) with recombinant α‐galactosidase A (r‐αGAL A) for the treatment of Fabry disease has been available for over 15 years. Long‐term treatment may slow down disease progression, but cardiac, renal, and cerebral complications ...
S. J. Veen +3 more
semanticscholar +1 more source
Molecular Genetics and Metabolism Reports, 2019 Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated ...
Amy Kritzer +3 more
doaj +1 more source
Anderson-Fabry disease: a multiorgan disease. [PDF]
, 2013 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo +5 more
core +1 more source
Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice [PDF]
, 2012 Fabry disease is a lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition.
Au, Bryan C. Y. +7 more
core +1 more source
Precision medicine in Fabry disease.
Nephrology, Dialysis and Transplantation, 2021 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to a deficiency in α-galactosidase A. The lysosomal accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3)
Malte Lenders, E. Brand
semanticscholar +1 more source
Urinary proteomics using capillary electrophoresis coupled to mass spectrometry for diagnosis and prognosis in kidney diseases [PDF]
, 2016 Purpose of review: Urine is the most useful of body fluids for biomarker research. Therefore, we have focused on urinary proteomics, using capillary electrophoresis coupled to mass spectrometry, to investigate kidney diseases in recent years.
Magalhães, Pedro +2 more
core +1 more source
X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis
International Journal of Molecular Sciences, 2021 Anderson-Fabry disease is an X-linked inborn error of glycosphingolipid catabolism caused by a deficiency of α-galactosidase A. The incidence ranges between 1: 40,000 and 1:117,000 of live male births. In Italy, an estimate of incidence is available only
E. Viggiano, L. Politano
semanticscholar +1 more source
Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy. [PDF]
, 2017 Previous cross-sectional studies reported a high prevalence of ascending aorta dilations/aneurysms in male adults with Fabry disease, independently of cardiovascular risk factors.
Barbey, F. +6 more
core +1 more source
Doença de Fabry - importância do rastreamento em córnea verticilata: relato de caso [PDF]
, 2011 Fabry disease is an X-linked disease of glycosphingolipid (GL) metabolism. The accumulation of GL in tissues can affect multiple organ systems. Initial symptoms includes episodes of severe pain in the extremities, cornea verticillata and skin lesions. In
Arantes, Tiago Eugênio Faria e +2 more
core +2 more sources