A novel mutation and in vivo confocal microscopic findings in Fabry disease
Sign Up to like & getrecommendations! Published in 2017 at "Saudi Journal of Ophthalmology"
DOI: 10.1016/j.sjopt.2016.12.005
Abstract: Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry… read more here.
Keywords: vivo confocal; confocal microscopic; fabry disease; disease ... See more keywords
Twin-to-twin transfusion syndrome: new macroscopic and microscopic findings
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Public Health"
DOI: 10.1093/eurpub/ckab120.003
Abstract: Twin-to-twin Transfusion Syndrome (TTTS) is a serious complication of monochorionic twin pregnancies. Affects about 10% to 15% of pregnancies and it is associated with high fetal and neonatal mortality, as well as cardiac and neurological… read more here.
Keywords: twin transfusion; transfusion syndrome; twin twin; macroscopic ... See more keywords