Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0127-2
Abstract: Fabry 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… read more here.
Keywords: cardiac variant; lyso gb3; disease; gb3 ... See more keywords
Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2017.06.006
Abstract: BACKGROUND Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Here, we… read more here.
Keywords: gb3 levels; classic later; gb3; lyso gb3 ... See more keywords
Evaluation of long-term effects by ERT for Fabry disease biochemical and EM pictures
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2018.12.182
Abstract: Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-gal A, leading to the progressive accumulation of sphingolipids. Enzyme replacement therapy (ERT) is the most common therapy at present which has… read more here.
Keywords: fabry disease; gb3; biopsy; microscopy ... See more keywords
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Open Respiratory Research"
DOI: 10.1136/bmjresp-2018-000277
Abstract: Introduction Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations of GLA gene leading to reduced α-galactosidase activity and resulting in a progressive accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine… read more here.
Keywords: plasma; gb3; initiation; lyso gb3 ... See more keywords
Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation
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DOI: 10.1136/openhrt-2023-002251
Abstract: Objective To present phenotypic characteristics and biomarkers of a family with the rare mutation Thr410Ala of the α-galactosidase A gene (T410A/GLA) causing Fabry disease (FD). Methods and results In a woman in her 60s with… read more here.
Keywords: t410a gla; lyso gb3; mutation; late onset ... See more keywords
Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043223
Abstract: Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired α-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb3) and related analogues. Lyso-Gb3 and related analogues are useful… read more here.
Keywords: lyso gb3; globotriaosylsphingosine; dried blood; analysis ... See more keywords