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Current status of the immunogenicity of enzyme replacement therapy in fabry disease. [PDF]

Orphanet J Rare Dis
Gómez-Cerezo JF, Fernández-Martín J, Barba-Romero MÁ, Sánchez-Martínez R, Hermida-Ameijeiras A, Camprodon-Gómez M, Ortolano S, Lopez-Rodriguez MA.   +7 more
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LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease

Clinica Chimica Acta, 2012
Fabry disease is a complex, multisystemic and clinically heterogeneous disease, with elevated excretion of globotriaosylceramide (Gb(3)) and globotriaosylsphingosine (lyso-Gb(3)) accumulating in biological fluids caused by deficiency of the enzyme, lysosomal α-galactosidase A.
Michel, Boutin, René, Gagnon, Pamela, Lavoie, Christiane, Auray-Blais   +3 more
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A Metabolomic Study Reveals Novel Plasma Lyso-Gb3 Analogs As Fabry Disease Biomarkers

Current Medicinal Chemistry, 2012
Fabry disease is an X-linked, multisystemic lysosomal storage disorder due to alpha-galactosidase A deficiency. It is characterized by the accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in biological fluids, vascular endothelium, heart, and kidneys.
F O, Dupont, R, Gagnon, M, Boutin, C, Auray-Blais   +3 more
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Tandem Mass Spectrometry Multiplex Analysis of Lyso-Gb3-Related Analogs for Fabry Disease

Molecular Genetics and Metabolism, 2012
Paméla Lavoie, René Gagnon, Michel Boutin, Félix Dupont, Christiane Auray‐Blais   +4 more
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How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Clinica Chimica Acta, 2010
Fabry disease is characterized by accumulation of glycosphingolipids, such as globotriaosylceramide (Gb(3)), in many tissues and body fluids. A novel plasma biomarker, globotriaosylsphingosine (lyso-Gb(3)), is increased in patients with the disease.
Auray-Blais, Christiane, Ntwari, Aimé, Clarke, Joe T.R., Warnock, David G., Oliveira, João Paulo, Young, Sarah P., Millington, David S., Bichet, Daniel G., Sirrs, Sandra, West, Michael L., Casey, Robin, Hwu, Wuh-Liang, Keutzer, Joan M., Zhang, X. Kate, Gagnon, René   +14 more
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Lyso-Gb3 determination in classic and late onset Fabry patients

Molecular Genetics and Metabolism, 2023
Paula A. Rozenfeld, Romina Ceci, Agueda Velazco, Emilio Vaena, Andrea N. Crivaro, Juan M. Mucci, Maximiliano E. Ormazabal, Constanza Bondar   +7 more
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Fabry disease: Lyso-Gb3 normalization as a reachable therapeutic goal

Molecular Genetics and Metabolism, 2023
Fernando J. Perretta, Juan M. Politei
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Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.

Clinical genetics, 2022
The purpose of this study was to examine the applicability of the use of samples in dried blood spot (DBS) for the definitive diagnosis of Fabry disease (FD) in males and females and to compare the diagnostic role of α-galactosidase A activity (α-Gal A), levels of lyso-Gb3 and sequencing of the GLA gene in screening patients with suspected FD ...
Rocío, Delarosa-Rodríguez, José D, Santotoribio, Hernández-Arévalo, Paula, Antonio, González-Meneses, Salvador, García-Morillo, Pilar, Jiménez-Arriscado, Juan M, Guerrero, Hada C, Macher   +7 more
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