MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease. [PDF]
BiomedicinesWeiner S +10 more
europepmc +1 more source
Deep learning assisted retinal microvasculature assessment and cerebral small vessel disease in Fabry disease. [PDF]
Orphanet J Rare DisLi Y +10 more
europepmc +1 more source
Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report. [PDF]
Front Cardiovasc MedLi Y, Huang B, Luo S.
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Elevated globotriaosylsphingosine is a hallmark of Fabry disease [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 2008 Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A that affects males and shows disease expression in heterozygotes. The characteristic progressive renal insufficiency, cardiac involvement, and neuropathology usually are ascribed to globotriaosylceramide accumulation in the endothelium.
Rolf G Boot +2 more
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A Concise Synthesis of Globotriaosylsphingosine
European Journal of Organic Chemistry, 2011 AbstractGlobotriaosylsphingosine (lysoCTH) is produced in the cell by deacylation of the globo‐sphingolipid globotriaosylceramide. The latter compound is the major storage material encountered in Fabry patients, an inherited lysosomal storage disorder characterized by partially impaired α‐galactosidase A (GLA) activity.
Johannes M F G Aerts +2 more
exaly +4 more sources
Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots
International Journal of Molecular Sciences, 2023 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 biomarkers for screening and should be routinely monitored ...
Michel Boutin +2 more
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Vascular Aspects of Fabry Disease in Relation to Clinical Manifestations and Elevations in Plasma Globotriaosylsphingosine [PDF]
Hypertension, 2012 Fabry disease is an X-linked hereditary lysosomal storage disorder attributed to a deficiency of α-galactosidase A leading to increased plasma levels of globotriaosylsphingosine (lysoGb3). The disease presents as a vascular disease, with cerebral, cardiac, and renal complications.
Johannes M F G Aerts +2 more
exaly +5 more sources
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy [PDF]
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2011 Fabry disease is treated by two-weekly infusions with α-galactosidase A, which is deficient in this X-linked globotriaosylceramide (Gb3) storage disorder. Elevated plasma globotriaosylsphingosine (lysoGb3) is a hallmark of classical Fabry disease.
Christoph Wanner +2 more
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Plasma globotriaosylsphingosine as a biomarker of Fabry disease
Molecular Genetics and Metabolism, 2010Fabry disease is an X-linked genetic disorder caused by a deficiency of alpha-galactosidase A (GLA) activity. As enzyme replacement therapy (ERT) involving recombinant GLAs has been introduced for this disease, a useful biomarker for diagnosis and monitoring of therapy has been strongly required.
Toshihiro Suzuki +2 more
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Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells
Nephrology, 2017AbstractFabry disease (FD) is a lysosomal disorder caused by mutations leading to a deficient activity α‐galactosidase A with progressive and systemic accumulation of its substrates. Substrates deposition is related to tissue damage in FD, but the underlying molecular mechanisms remain not completely understood.
Franciele Faccio Busatto +2 more
exaly +3 more sources