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Globotriaosylsphingosine (Lyso‐Gb3) as a biomarker for cardiac variant (N215S) Fabry disease
Journal of Inherited Metabolic Disease, 2018AbstractFabry disease (FD) is a multi‐systemic X‐linked lysosomal disorder caused by the deficient activity of α‐galactosidase‐A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype.
Fahad J. Alharbi +9 more
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Molecular Genetics and Metabolism, 2012
Recently, plasma globotriaosylsphingosine (lyso-Gb3) has attracted attention as a biomarker of Fabry disease. However, we found a subset of Fabry disease patients who did not show any increase in the plasma lyso-Gb3 concentration, although other patients exhibited apparent enhancement of it. This subset predominantly exhibited the clinical phenotype of
Sayuri, Mitobe +13 more
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Recently, plasma globotriaosylsphingosine (lyso-Gb3) has attracted attention as a biomarker of Fabry disease. However, we found a subset of Fabry disease patients who did not show any increase in the plasma lyso-Gb3 concentration, although other patients exhibited apparent enhancement of it. This subset predominantly exhibited the clinical phenotype of
Sayuri, Mitobe +13 more
openaire +2 more sources
Clinica Chimica Acta, 2020
Fabry disease (FD) is a genetic disorder caused by defective α-galactosidase-A enzyme due to mutations in the GLA gene. A reliable diagnosis in classical FD males can be made by measuring the enzyme activity while diagnosing classical FD females and non-classical FD patients requires mutation analysis.
Fahad J, Alharbi +9 more
openaire +2 more sources
Fabry disease (FD) is a genetic disorder caused by defective α-galactosidase-A enzyme due to mutations in the GLA gene. A reliable diagnosis in classical FD males can be made by measuring the enzyme activity while diagnosing classical FD females and non-classical FD patients requires mutation analysis.
Fahad J, Alharbi +9 more
openaire +2 more sources
Biochemical and Biophysical Research Communications, 2010
Fabry disease is a genetic disease caused by a deficiency of alpha-galactosidase A (GLA), which leads to systemic accumulation of glycolipids, predominantly globotriaosylceramide (Gb3). With the introduction and spread of enzyme replacement therapy (ERT) with recombinant GLAs for this disease, a useful biomarker for assessing the response to ERT is ...
Tadayasu, Togawa +7 more
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Fabry disease is a genetic disease caused by a deficiency of alpha-galactosidase A (GLA), which leads to systemic accumulation of glycolipids, predominantly globotriaosylceramide (Gb3). With the introduction and spread of enzyme replacement therapy (ERT) with recombinant GLAs for this disease, a useful biomarker for assessing the response to ERT is ...
Tadayasu, Togawa +7 more
openaire +2 more sources
Elevated globotriaosylsphingosine as a hallmark of Fabry disease
Chemistry and Physics of Lipids, 2008Ben J. Poorthuis +5 more
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Arteriosclerosis, Thrombosis, and Vascular Biology
Fabry disease is a lysosomal storage disorder characterized by the lysosomal accumulations of glycosphingolipids in a variety of cytotypes, which include endothelial cells. The disease is inherited and originates from an error in glycosphingolipid catabolism caused by insufficient α-galactosidase A activity, which causes uncontrolled progressive ...
openaire +1 more source
Fabry disease is a lysosomal storage disorder characterized by the lysosomal accumulations of glycosphingolipids in a variety of cytotypes, which include endothelial cells. The disease is inherited and originates from an error in glycosphingolipid catabolism caused by insufficient α-galactosidase A activity, which causes uncontrolled progressive ...
openaire +1 more source