Fabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient. [PDF]
CureusJoppich J +4 more
europepmc +1 more source
A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy. [PDF]
Kidney MedOka M, Suzuki R, Akasaka T.
europepmc +1 more source
Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment. [PDF]
Orphanet J Rare DisGraziani F +9 more
europepmc +1 more source
Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis. [PDF]
BMC NephrolKato H +9 more
europepmc +1 more source
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II [PDF]
International Journal of Molecular SciencesLysosomal storage diseases are caused by defective lysosomal function, such as impaired lysosomal enzyme activities, which include more than 70 different diseases. Although biomarkers and therapies have been developed to date for some of them, many others remain challenging to diagnose and treat.
Seigo Terawaki +2 more
exaly +5 more sources
Lyso-Gb3 Increases αvβ3 Integrin Gene Expression in Cultured Human Podocytes in Fabry Nephropathy [PDF]
Journal of Clinical Medicine, 2020 Background: Podocyturia in Fabry nephropathy leads to glomerulosclerosis and kidney disease progression. Integrins are involved in podocyte attachment to the glomerular basement membrane. We hypothesized that in Fabry nephropathy, lyso-Gb3 could modulate αvβ3 expression in podocytes.
Maria Dolores Sanchez-niño +2 more
exaly +5 more sources
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant [PDF]
JIMD Reports, 2018 Fabry disease (FD), an X-linked lysosomal storage disease, results from an α-galactosidase A deficiency and altered sphingolipid metabolism. An accumulation of globotriaosylsphingosine (lyso-Gb3) likely triggers the pathological cascade leading to disease phenotype.
Kathleen Nicholls, Andrew S Talbot
exaly +5 more sources
Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease [PDF]
Molecular Genetics and Metabolism, 2017 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 compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in
Robert J. Desnick +2 more
exaly +6 more sources
The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain [PDF]
Neuroscience Letters, 2015 Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy. Globotriaosylsphingosine (lyso-Gb3), a deacylated form of globotriaosylceramide (Gb3), has emerged as a marker of Fabry disease.
Peter Theodore Clayton +2 more
exaly +5 more sources
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 Globotriaosylsphingosine (lyso-Gb3) is a well-established biomarker for diagnosis and prognosis of Fabry disease. This biomarker is measured in biological samples by liquid chromatography-tandem mass spectrometry using an internal standard. The ideal internal standard is a variant of lyso-Gb3 substituted with heavy isotopes, but the total synthesis of ...
Michael H. Gelb, Xinying Hong
exaly +4 more sources