Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report
Sign Up to like & getrecommendations! Published in 2020 at "Renal Failure"
DOI: 10.1080/0886022x.2020.1818578
Abstract: Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the α-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria or low-grade proteinuria,… read more here.
Keywords: sudden onset; onset nephrotic; case report; fabry ... See more keywords
Trabecular complexity as an early marker of cardiac involvement in Fabry disease.
Sign Up to like & getrecommendations! Published in 2021 at "European heart journal cardiovascular Imaging"
DOI: 10.1093/ehjci/jeaa354
Abstract: AIMS Fabry cardiomyopathy is characterized by glycosphingolipid storage and increased myocardial trabeculation has also been demonstrated. This study aimed to explore by cardiac magnetic resonance whether myocardial trabecular complexity, quantified by endocardial border fractal analysis,… read more here.
Keywords: males age; group; cardiac involvement; fabry ... See more keywords
Binary endocardial appearance for Fabry disease diagnosis: a systematic review and meta-analysis
Sign Up to like & getrecommendations! Published in 2022 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehac544.149
Abstract: This study aimed to determine the performance of the endocardial binary appearance (binary sign [BS]) on echocardiography for Fabry-Anderson disease (FD) diagnosis. A diagnostic systematic review was performed, which included studies with >20 patients selected,… read more here.
Keywords: diagnosis; appearance; fabry; systematic review ... See more keywords
P899Long-term evolution of Fabry cardiomyopathy under enzyme replacement therapy in the Swiss Fabry cohort. An echocardiographic study
Sign Up to like & getrecommendations! Published in 2019 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehz747.0495
Abstract: Fabry cardiomyopathy may present with left ventricular hypertrophy (LVH) and enzyme replacement therapy (ERT) aims to slow its progression in affected patients. LVH progression may be observed despite ERT and the aim of this study… read more here.
Keywords: mass; increase; study; fabry cardiomyopathy ... See more keywords
Enzyme replacement therapy dose and Fabry nephropathy
Sign Up to like & getrecommendations! Published in 2018 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfy089
Abstract: In Fabry disease (FD), GLA mutations cause an enzyme deficiency, glycosphingolipid accumulation, and potentially lethal kidney, heart and central nervous system involvement [1]. Globotriaosylceramide (Gb3) is the best-characterized accumulated glycosphingolipid, but the relative increase in… read more here.
Keywords: fabry nephropathy; replacement therapy; fabry; enzyme replacement ... See more keywords
Probing nanoparticle substrate interactions with synchrotron infrared nanospectroscopy: Coupling gold nanorod Fabry-Pérot resonances with SiO2 and h−BN phonons
Sign Up to like & getrecommendations! Published in 2021 at "Physical Review B"
DOI: 10.1103/physrevb.104.035412
Abstract: Spectroscopic interrogation of materials in the midinfrared with nanometer spatial resolution is inherently difficult due to the long wavelengths involved, reduced detector efficiencies, and limited availability of spectrally bright, coherent light sources. Technological advances are… read more here.
Keywords: nanoparticle substrate; infrared nanospectroscopy; probing nanoparticle; synchrotron infrared ... See more keywords
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108669
Abstract: Background Fabry disease is a rare, multisystemic disorder caused by GLA gene variants that lead to alpha galactosidase A deficiency, resulting in accumulation of glycosphingolipids and cellular dysfunction. Fabry-associated clinical events (FACEs) cause significant morbidity… read more here.
Keywords: fabry associated; long term; incidence; fabry ... See more keywords
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Sign Up to like & getrecommendations! Published in 2022 at "PLOS ONE"
DOI: 10.1371/journal.pone.0277767
Abstract: The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry… read more here.
Keywords: disease; fabry; danish fabry; cohort ... See more keywords