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A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease
Molecular Genetics and Metabolism, 2017Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). As a direct consequence, the deacetylated derivative, globotriaosylsphingosine (lyso-Gb3), is produced and contemporary evidence exemplifies its use as a biomarker.
Maria Fuller +2 more
exaly +3 more sources
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
Eisei Noiri, Makoto Yoshino, Kazuki Ohno
exaly +3 more sources
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
Eisei Noiri, Makoto Yoshino, Kazuki Ohno
exaly +3 more sources
Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS
Clinica Chimica Acta, 2020To develop a method for the combined analysis of plasma and serum glucosylsphingosine (lyso-Gb1) and globotriaosylsphingosine (lyso-Gb3), biomarkers of Gaucher disease (GD) and Fabry disease (FD), respectively.Internal standards were added to 100 µL of plasma/serum and glycosphingolipids: lyso-Gb1, lyso-Gb3, and galactosylsphingosine (GalSph) were ...
James, Beasley +4 more
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Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics
Analytical Chemistry, 2012Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine. Two disease-specific Fabry biomarkers have been identified and quantified in plasma and urine: globotriaosylceramide (Gb(3)) and globotriaosylsphingosine (lyso-Gb(3 ...
Christiane, Auray-Blais +5 more
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Molecular Genetics and Metabolism, 2017 Background: The level of plasma globotriaosylsphingosine (lysoGb3) is an indication of disease severity in Fabry disease (FD) and its decrease during enzyme replacement therapy could be a reflection of treatment efficacy.
Atul Mehta +2 more
exaly +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 ...
Toshihiro Suzuki +2 more
exaly +3 more sources
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 ...
Toshihiro Suzuki +2 more
exaly +3 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
Journal of Stroke and Cerebrovascular Diseases, 2018
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in GLA, which encodes the enzyme α-galactosidase A (α-Gal A). Although the prevalence of Fabry disease in patients with stroke has been reported to range from 0% to 4%, few cohort studies have examined Japanese stroke patients.
Naoto Kinoshita +16 more
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Fabry disease is an X-linked lysosomal storage disorder caused by mutations in GLA, which encodes the enzyme α-galactosidase A (α-Gal A). Although the prevalence of Fabry disease in patients with stroke has been reported to range from 0% to 4%, few cohort studies have examined Japanese stroke patients.
Naoto Kinoshita +16 more
openaire +2 more sources
Elevated globotriaosylsphingosine as a hallmark of Fabry disease
Chemistry and Physics of Lipids, 2008Ben J. Poorthuis +5 more
openaire +1 more source