A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3) [PDF]
Molecules, 2021 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A).
Manuela Contin +2 more
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Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients [PDF]
PLoS ONE, 2013 Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3).
Maria Fuller +2 more
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Novel GLA variant (c.752A>C; p.Glu251Ala) identified in a patient with Fabry cardiomyopathy and familial segregation [PDF]
Frontiers in Molecular BiosciencesBackgroundFabry disease (Anderson–Fabry disease,FD) is an X-linked lysosomal storage disorder caused by variants in GLA, resulting in α-galactosidase A (α-Gal A) deficiency and accumulation of globotriaosylsphingosine (lyso-Gb3), with frequent cardiac ...
Ting Zhang, Sulan Huang, Fan Huang
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Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy [PDF]
Frontiers in GeneticsBackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li +5 more
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Fabry Disease: Integrating Molecular Pathophysiology, Precision Diagnosis, and Artificial Intelligence Toward Precision Medicine [PDF]
CellsFabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient α-galactosidase A activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso ...
Giuseppa Biddeci +5 more
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Fabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification [PDF]
Frontiers in GeneticsFabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, in which the kidney is a principal target organ and Fabry nephropathy is a major determinant of long-term outcome.
Yanshu Xie, Jingzi Zhong
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Pathogenic mechanisms in Fabry disease [PDF]
Frontiers in MedicineAnderson-Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), across multiple
Siming Wang, Chengyue Sun
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Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review [PDF]
Orphanet Journal of Rare DiseasesBackground Fabry disease is a lysosomal storage disorder caused by deficient activity of the enzyme α-galactosidase A, resulting in progressive accumulation of globotriaosylceramide (Gb3) and widespread tissue and organ damage. Enzyme replacement therapy
Patricio Aguiar +2 more
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Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH) [PDF]
BMC NephrologyBackground and hypothesis Fabry disease (FD) is an X-linked inherited disorder with an estimated prevalence among the end-stage kidney disease (ESKD) population of 0.3% in men and 0.1% in women [1].
K.P. Ng +13 more
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One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease [PDF]
Molecular Genetics and Metabolism, 2018 Michael H. Gelb, Xinying Hong
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