Results 61 to 70 of about 7,739 (261)
Journal of Lipid Research, 2010 Fabry disease is an X-linked disorder caused by mutations in the GLA gene encoding for α-galactosidase A (AGA, EC 3.2.1.22). Measurement of AGA enzyme activity using cell homogenates can easily identify men with Fabry disease, but in women, the degree of
Christine R. Kaneski +3 more
doaj +1 more source
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]
, 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
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Determination of globotriaosylceramide in plasma and urine by mass spectrometry [PDF]
cclm, 2009 Abstract Background: Fabry disease is an X-chromosomally inherited lysosomal storage disorder leading to accumulation of glycosphingolipids, mainly globotriaosylceramide (ceramide-trihexoside, Gb3). Concentrations of Gb3 in plasma and urine have been used to diagnose Fabry disease and to monitor enzyme replacement ...
Krüger, Ralf +6 more
openaire +3 more sources
Nefrología, 2023 Resumen: La enfermedad de Fabry o también llamada de Anderson-Fabry (EF) es una enfermedad rara, causada por variantes patogénicas en el gen GLA, localizado en el cromosoma X.
Pablo Rodríguez Doyágüez +5 more
doaj +1 more source
Shiga toxin production and translocation during microaerobic human colonic infection with Shiga toxin-producing E. coli O157:H7 and O104:H4 [PDF]
, 2014 Haemolytic uraemic syndrome caused by Shiga toxin-producing E. coli (STEC) is dependent on release of Shiga toxins (Stxs) during intestinal infection and subsequent absorption into the bloodstream.
Billoud, Lucile +4 more
core +2 more sources
A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis [PDF]
Biochemical Journal, 2013 Fabry disease is a lysosomal storage disorder in which neutral glycosphingolipids, predominantly Gb3 (globotriaosylceramide), accumulate due to deficient α-Gal A (α-galactosidase A) activity. The GLAko (α-Gal A-knockout) mouse has been used as a model for Fabry disease, but it does not have any symptomatic abnormalities.
Atsumi, Taguchi +7 more
openaire +2 more sources
Treatment of Fabry Disease: Established and Emerging Therapies
Pharmaceuticals, 2023 Fabry disease (FD) is a rare, X-linked inherited disorder of glycosphingolipid metabolism. It leads to the progressive accumulation of globotriaosylceramide within lysosomes due to a deficiency of α-galactosidase A enzyme.
Muhammad Umer, Dinesh K. Kalra
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
Clinical heterogeneity in Fabry disease
Нервно-мышечные болезни, 2015 Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500), caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types ...
G. N. Salogub
doaj +1 more source
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat [PDF]
, 2017 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.
A Gal +53 more
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