The correlation of small fiber neuropathy with pain intensity and age in patients with Fabry's disease: A cross sectional study within a large Taiwanese family
Sign Up to like & getrecommendations! Published in 2021 at "Biomedical journal"
DOI: 10.1016/j.bj.2021.04.011
Abstract: Abstract Background The relationships among small fiber neuropathy, age, sex and pain intensity in the context of Fabry's disease remain unclear. We aim to study the correlations of small fiber neuropathy, age, sex and pain… read more here.
Keywords: fabry patients; pain intensity; age;
Right ventricular strain in Anderson-Fabry disease.
Sign Up to like & getrecommendations! Published in 2021 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2021.02.038
Abstract: BACKGROUND 2D speckle tracking echocardiography (2DSTE) is superior to standard echocardiography in the assessment of subtle right ventricle (RV) systolic dysfunction. In this study we aimed to: 1) test the hypothesis that 2DSTE may unveil… read more here.
Keywords: fabry disease; fabry patients; lvh; fws ... See more keywords
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.122
Abstract: Purpose:Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity.Methods:A pharmacogenetic assay was… read more here.
Keywords: hek assay; validation pharmacogenetics; pharmacogenetics identification; fabry patients ... See more keywords
Fabry disease and incidence of cancer
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0701-6
Abstract: BackgroundFabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including globotriaosylsphingosine (Lyso-Gb3). Increased cellular and plasma levels… read more here.
Keywords: incidence; fabry disease; disease; fabry patients ... See more keywords